R103W (p.Arg103Trp) variant of RLBP1 (Retinaldehyde-binding protein 1)
R103W (p.Arg103Trp) 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 0.62 / 1. The record also includes population frequency data and structural context.
R103W (p.Arg103Trp) variant details
- p.Arg103Trp
- rs200725857
- ESP rs200725857
- ExAC rs200725857
- TOPMed rs200725857
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.79
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available