A9S (p.Ala9Ser) variant of OCRL (Q01968)
A9S (p.Ala9Ser) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD X-129540464-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.26
- MetaLR 0.56
- MetaSVM -0.47
- CADD 16.50
- PolyPhen-2 0.04
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available