G105V (p.Gly105Val) variant of KRIT1 (O00522)
G105V (p.Gly105Val) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G105V (p.Gly105Val) variant details
- p.Gly105Val
- ESP rs376022532
- ExAC rs376022532
- TOPMed rs376022532
- gnomAD rs376022532
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.67
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.13
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available