A82G (p.Ala82Gly) variant of KRIT1 (O00522)
A82G (p.Ala82Gly) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A82G (p.Ala82Gly) variant details
- p.Ala82Gly
- ExAC rs749330621
- gnomAD rs749330621
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.20
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 0.00048)
- Structural context available