V12A (p.Val12Ala) variant of LDLR (Low-density lipoprotein receptor)
V12A (p.Val12Ala) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- gnomAD 19-11090614-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 8.38
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available