Q50K (p.Gln50Lys) variant of OCRL (Q01968)
Q50K (p.Gln50Lys) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q50K (p.Gln50Lys) variant details
- p.Gln50Lys
- gnomAD X-129544986-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.25
- MetaLR 0.54
- MetaSVM -0.40
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.93
- Population evidence available
- Structural context available
- Literature evidence available