Q10H (p.Gln10His) variant of OCRL (Q01968)
Q10H (p.Gln10His) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- gnomAD X-129540469-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.20
- MetaLR 0.63
- MetaSVM -0.03
- CADD 22.60
- PolyPhen-2 0.28
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available