E17K (p.Glu17Lys) variant of RLBP1 (Retinaldehyde-binding protein 1)
E17K (p.Glu17Lys) 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 0.32 / 1. The record also includes population frequency data and structural context.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- rs867569502
- ClinGen CA274536589
- ClinVar RCV000728995
- TOPMed rs867569502
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.18
- CADD 19.70
- PolyPhen-2 0.14
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available