G105D (p.Gly105Asp) variant of KRIT1 (O00522)
G105D (p.Gly105Asp) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G105D (p.Gly105Asp) variant details
- p.Gly105Asp
- ESP rs376022532
- ExAC rs376022532
- TOPMed rs376022532
- gnomAD rs376022532
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.55
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.22
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available