A20V (p.Ala20Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
A20V (p.Ala20Val) 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 0.37 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- ExAC rs774472430
- TOPMed rs774472430
- gnomAD rs774472430
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.24
- AlphaMissense 0.17
- MetaLR 0.54
- MetaSVM 0.01
- CADD 23.50
- PolyPhen-2 0.63
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available