L22V (p.Leu22Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
L22V (p.Leu22Val) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- 1000Genomes rs541532100
- ExAC rs541532100
- gnomAD rs541532100
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.44
- CADD 19.40
- PolyPhen-2 0.73
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available