L12V (p.Leu12Val) variant of OCRL (Q01968)
L12V (p.Leu12Val) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- gnomAD X-129540473-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.26
- MetaLR 0.54
- MetaSVM -0.35
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available