W18C (p.Trp18Cys) variant of HMGCR (P04035)
W18C (p.Trp18Cys) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
W18C (p.Trp18Cys) variant details
- p.Trp18Cys
- gnomAD 5-75342659-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available