A13V (p.Ala13Val) variant of LDLR (Low-density lipoprotein receptor)
A13V (p.Ala13Val) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD rs2077057804
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 11.80
- PolyPhen-2 0.15
- SIFT 0.35
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available