P57H (p.Pro57His) variant of OCRL (Q01968)
P57H (p.Pro57His) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P57H (p.Pro57His) variant details
- p.Pro57His
- gnomAD X-129545008-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.83
- MetaLR 0.86
- MetaSVM 0.91
- CADD 24.40
- PolyPhen-2 0.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available