D128H (p.Asp128His) variant of CEP290 (Centrosomal protein of 290 kDa)
D128H (p.Asp128His) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Nephronophthisis; Meckel-Gruber syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D128H (p.Asp128His) variant details
- p.Asp128His
- rs755112866
- ClinGen CA6712817
- ClinVar RCV002586586
- ClinVar RCV004534126
- Uncertain significance
- Inborn genetic diseases; Nephronophthisis; Meckel-Gruber syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.25
- AlphaMissense 0.14
- MetaLR 0.63
- MetaSVM 0.43
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Nephronophthisis; Meckel-Gruber syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)