V14A (p.Val14Ala) variant of KRIT1 (O00522)
V14A (p.Val14Ala) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- Ensembl rs1585030358
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.44
- CADD 24.20
- PolyPhen-2 0.93
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 0.00048)
- Structural context available