S22N (p.Ser22Asn) variant of KRIT1 (O00522)
S22N (p.Ser22Asn) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- ExAC rs746318987
- TOPMed rs746318987
- gnomAD rs746318987
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.22
- CADD 23.60
- PolyPhen-2 0.91
- SIFT 0.12
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available