Q45K (p.Gln45Lys) variant of KRIT1 (O00522)
Q45K (p.Gln45Lys) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q45K (p.Gln45Lys) variant details
- p.Gln45Lys
- ExAC rs756365172
- gnomAD rs756365172
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.12
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available