V20V (p.Val20Val) variant of HMGCR (P04035)
V20V (p.Val20Val) in HMGCR (P04035) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V20V (p.Val20Val) variant details
- p.Val20Val
- rs892502039
- gnomAD 5-75342665-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 9.82
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available