H38R (p.His38Arg) variant of KRIT1 (O00522)
H38R (p.His38Arg) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H38R (p.His38Arg) variant details
- p.His38Arg
- gnomAD rs1265322620
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.08
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.80
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available