E54K (p.Glu54Lys) variant of RLBP1 (Retinaldehyde-binding protein 1)
E54K (p.Glu54Lys) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pigmentary retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- rs1475069366
- NCI-TCGA Cosmic COSV5152
- 1000Genomes rs1475069366
- TOPMed rs1475069366
- Uncertain significance
- Pigmentary retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.80
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Pigmentary retinal dystrophy)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available