A74V (p.Ala74Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
A74V (p.Ala74Val) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A74V (p.Ala74Val) variant details
- p.Ala74Val
- rs1238365040
- ClinGen CA393730899
- NCI-TCGA Cosmic COSV5152
- ClinVar RCV001297296
- Uncertain significance
- not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.53
- CADD 23.30
- PolyPhen-2 0.94
- SIFT 0.45
- ClinVar: Uncertain significance (not provided; Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available