Q44H (p.Gln44His) variant of OCRL (Q01968)
Q44H (p.Gln44His) 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.
Q44H (p.Gln44His) variant details
- p.Gln44His
- gnomAD X-129544970-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.25
- MetaLR 0.60
- MetaSVM -0.02
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.87
- Population evidence available
- Structural context available
- Literature evidence available