P57T (p.Pro57Thr) variant of OCRL (Q01968)
P57T (p.Pro57Thr) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P57T (p.Pro57Thr) variant details
- p.Pro57Thr
- gnomAD X-129545007-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.73
- MetaLR 0.82
- MetaSVM 0.79
- CADD 22.50
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available