V20F (p.Val20Phe) variant of HMGCR (P04035)
V20F (p.Val20Phe) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
V20F (p.Val20Phe) variant details
- p.Val20Phe
- ExAC rs780893840
- gnomAD rs780893840
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.64
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available