E68K (p.Glu68Lys) variant of RLBP1 (Retinaldehyde-binding protein 1)
E68K (p.Glu68Lys) 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 0.40 / 1. The record also includes population frequency data and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- rs1596184582
- ClinGen CA393731004
- ClinVar RCV001894587
- Ensembl rs1596184582
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.31
- AlphaMissense 0.08
- MetaLR 0.52
- MetaSVM -0.11
- CADD 23.10
- PolyPhen-2 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available