Q44L (p.Gln44Leu) variant of OCRL (Q01968)
Q44L (p.Gln44Leu) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q44L (p.Gln44Leu) variant details
- p.Gln44Leu
- gnomAD X-129544969-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.36
- MetaLR 0.53
- MetaSVM -0.28
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available