A13V (p.Ala13Val) variant of OCRL (Q01968)
A13V (p.Ala13Val) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD rs1266704387
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.19
- MetaLR 0.66
- MetaSVM -0.22
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available