K50R (p.Lys50Arg) variant of KRIT1 (O00522)
K50R (p.Lys50Arg) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K50R (p.Lys50Arg) variant details
- p.Lys50Arg
- gnomAD rs1799533617
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.21
- CADD 23.60
- PolyPhen-2 0.95
- SIFT 0.46
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available