G6S (p.Gly6Ser) variant of RLBP1 (Retinaldehyde-binding protein 1)
G6S (p.Gly6Ser) 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 0.59 / 1. The record also includes population frequency data and structural context.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- rs2505865278
- ClinGen CA393731920
- ClinVar RCV002999288
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.45
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available