P27T (p.Pro27Thr) variant of OCRL (Q01968)
P27T (p.Pro27Thr) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P27T (p.Pro27Thr) variant details
- p.Pro27Thr
- gnomAD X-129540783-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.34
- MetaLR 0.69
- MetaSVM 0.32
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available