I43V (p.Ile43Val) variant of OCRL (Q01968)
I43V (p.Ile43Val) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I43V (p.Ile43Val) variant details
- p.Ile43Val
- gnomAD X-129544965-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.23
- MetaLR 0.70
- MetaSVM 0.17
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available