Q39K (p.Gln39Lys) variant of RLBP1 (Retinaldehyde-binding protein 1)
Q39K (p.Gln39Lys) 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 Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q39K (p.Gln39Lys) variant details
- p.Gln39Lys
- Ensembl rs950374629
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.17
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available