A81V (p.Ala81Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
A81V (p.Ala81Val) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A81V (p.Ala81Val) variant details
- p.Ala81Val
- ExAC rs767601073
- TOPMed rs767601073
- gnomAD rs767601073
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.29
- CADD 24.40
- PolyPhen-2 0.58
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available