S76L (p.Ser76Leu) variant of RLBP1 (Retinaldehyde-binding protein 1)
S76L (p.Ser76Leu) 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 0.37 / 1. The record also includes population frequency data and structural context.
S76L (p.Ser76Leu) variant details
- p.Ser76Leu
- rs149742128
- ClinGen CA7722352
- ClinVar RCV001057407
- 1000Genomes rs149742128
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.21
- CADD 17.00
- PolyPhen-2 0.03
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available