Q50L (p.Gln50Leu) variant of OCRL (Q01968)
Q50L (p.Gln50Leu) 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.
Q50L (p.Gln50Leu) variant details
- p.Gln50Leu
- gnomAD X-129544987-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.23
- MetaLR 0.58
- MetaSVM -0.37
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available