E61K (p.Glu61Lys) variant of RLBP1 (Retinaldehyde-binding protein 1)
E61K (p.Glu61Lys) 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 0.25 / 1. The record also includes population frequency data and structural context.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- rs1567123991
- Ensembl rs1567123991
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.17
- CADD 17.40
- PolyPhen-2 0.06
- SIFT 0.38
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available