A85V (p.Ala85Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
A85V (p.Ala85Val) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A85V (p.Ala85Val) variant details
- p.Ala85Val
- rs1393804387
- NCI-TCGA Cosmic COSV5152
- TOPMed rs1393804387
- gnomAD rs1393804387
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.41
- CADD 20.20
- PolyPhen-2 0.13
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available