V12F (p.Val12Phe) variant of LDLR (Low-density lipoprotein receptor)
V12F (p.Val12Phe) 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.
V12F (p.Val12Phe) variant details
- p.Val12Phe
- rs1004149250
- gnomAD 19-11090613-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 7.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available