V12L (p.Val12Leu) variant of LDLR (Low-density lipoprotein receptor)
V12L (p.Val12Leu) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- gnomAD 19-11089582-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0995
- CADD 2.92
- PolyPhen-2 0.01
- SIFT 0.96
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available