R42C (p.Arg42Cys) variant of RLBP1 (Retinaldehyde-binding protein 1)
R42C (p.Arg42Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R42C (p.Arg42Cys) variant details
- p.Arg42Cys
- rs765041521
- ClinGen CA7722390
- NCI-TCGA Cosmic COSV5152
- ClinVar RCV001054252
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.42
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available