A56V (p.Ala56Val) variant of APOL1 (Apolipoprotein L1)
A56V (p.Ala56Val) in APOL1 (Apolipoprotein L1) is a missense change. Clinical records from ClinVar 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 0.09 / 1. The record also includes population frequency data and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- ExAC rs776494978
- TOPMed rs776494978
- gnomAD rs776494978
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0905
- REVEL 0.03
- CADD 7.66
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available