H52D (p.His52Asp) variant of ABCA4 (P78363)
H52D (p.His52Asp) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
H52D (p.His52Asp) variant details
- p.His52Asp
- rs941059389
- ClinGen CA26842836
- ClinVar RCV001036847
- ClinVar RCV004629401
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.28
- MetaLR 0.18
- MetaSVM -0.86
- CADD 23.20
- PolyPhen-2 0.34
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)