V7L (p.Val7Leu) variant of OCRL (Q01968)
V7L (p.Val7Leu) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- gnomAD X-129540458-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.28
- MetaLR 0.48
- MetaSVM -0.56
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.80
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available
- Literature evidence available