Q50H (p.Gln50His) variant of OCRL (Q01968)
Q50H (p.Gln50His) 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.
Q50H (p.Gln50His) variant details
- p.Gln50His
- gnomAD X-129544988-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.21
- MetaLR 0.61
- MetaSVM -0.35
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available