A9D (p.Ala9Asp) variant of OCRL (Q01968)
A9D (p.Ala9Asp) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- gnomAD X-129540465-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.54
- MetaLR 0.69
- MetaSVM 0.11
- CADD 20.40
- PolyPhen-2 0.26
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available