I42M (p.Ile42Met) variant of OCRL (Q01968)
I42M (p.Ile42Met) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I42M (p.Ile42Met) variant details
- p.Ile42Met
- gnomAD X-129544964-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.47
- MetaLR 0.64
- MetaSVM 0.35
- CADD 20.60
- PolyPhen-2 0.10
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available