P60H (p.Pro60His) variant of NOTCH1 (P46531)
P60H (p.Pro60His) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P60H (p.Pro60His) variant details
- p.Pro60His
- Ensembl rs2133379729
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.22
- Population evidence available
- Structural context available