K104R (p.Lys104Arg) variant of RLBP1 (Retinaldehyde-binding protein 1)
K104R (p.Lys104Arg) 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 0.74 / 1. The record also includes population frequency data and structural context.
K104R (p.Lys104Arg) variant details
- p.Lys104Arg
- rs753830559
- ClinGen CA7722325
- ClinVar RCV002297183
- ExAC rs753830559
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.80
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.02
- 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