L32V (p.Leu32Val) variant of OCRL (Q01968)
L32V (p.Leu32Val) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- gnomAD X-129540798-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.33
- MetaLR 0.77
- MetaSVM 0.32
- CADD 22.70
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available