A102G (p.Ala102Gly) variant of RLBP1 (Retinaldehyde-binding protein 1)
A102G (p.Ala102Gly) 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 0.81 / 1. The record also includes population frequency data and structural context.
A102G (p.Ala102Gly) variant details
- p.Ala102Gly
- rs2051587319
- ClinGen CA393730736
- ClinVar RCV001887162
- TOPMed rs2051587319
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.83
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available