A22V (p.Ala22Val) variant of LDLR (Low-density lipoprotein receptor)
A22V (p.Ala22Val) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- ExAC rs777132399
- gnomAD rs777132399
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 22.70
- PolyPhen-2 0.18
- SIFT 0.25
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available