A110V (p.Ala110Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
A110V (p.Ala110Val) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
A110V (p.Ala110Val) variant details
- p.Ala110Val
- gnomAD rs1193488428
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.93
- CADD 29.90
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available