G105C (p.Gly105Cys) variant of KRIT1 (O00522)
G105C (p.Gly105Cys) 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.
G105C (p.Gly105Cys) variant details
- p.Gly105Cys
- ExAC rs755998845
- gnomAD rs755998845
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.66
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available