P11T (p.Pro11Thr) variant of OCRL (Q01968)
P11T (p.Pro11Thr) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- gnomAD X-129540470-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.24
- MetaLR 0.63
- MetaSVM -0.21
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available