A14A (p.Ala14Ala) variant of HMGCR (P04035)
A14A (p.Ala14Ala) in HMGCR (P04035) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs1760048909
- gnomAD 5-75342647-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 12.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available