V12V (p.Val12Val) variant of LDLR (Low-density lipoprotein receptor)
V12V (p.Val12Val) in LDLR (Low-density lipoprotein receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V12V (p.Val12Val) variant details
- p.Val12Val
- gnomAD 19-11089584-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 8.07
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available