Y28H (p.Tyr28His) variant of KRIT1 (O00522)
Y28H (p.Tyr28His) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Y28H (p.Tyr28His) variant details
- p.Tyr28His
- ExAC rs754156971
- gnomAD rs754156971
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.51
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available