V72A (p.Val72Ala) variant of KRIT1 (O00522)
V72A (p.Val72Ala) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V72A (p.Val72Ala) variant details
- p.Val72Ala
- rs1440357472
- ClinGen CA368165802
- ClinVar RCV002417891
- gnomAD rs1440357472
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.35
- CADD 25.80
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00048)
- 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)