A9P (p.Ala9Pro) variant of OCRL (Q01968)
A9P (p.Ala9Pro) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- gnomAD X-129540464-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.50
- MetaLR 0.61
- MetaSVM -0.16
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available