S22G (p.Ser22Gly) variant of KRIT1 (O00522)
S22G (p.Ser22Gly) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S22G (p.Ser22Gly) variant details
- p.Ser22Gly
- TOPMed rs1799793450
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.38
- CADD 25.80
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available