K57R (p.Lys57Arg) variant of KRIT1 (O00522)
K57R (p.Lys57Arg) 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.
K57R (p.Lys57Arg) variant details
- p.Lys57Arg
- ExAC rs760394812
- TOPMed rs760394812
- gnomAD rs760394812
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.53
- SIFT 0.30
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available