S2L (p.Ser2Leu) variant of RLBP1 (Retinaldehyde-binding protein 1)
S2L (p.Ser2Leu) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- gnomAD rs1212807954
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available