V52I (p.Val52Ile) variant of OCRL (Q01968)
V52I (p.Val52Ile) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- gnomAD X-129544992-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.16
- MetaLR 0.57
- MetaSVM -0.35
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available