F6S (p.Phe6Ser) variant of HMGCR (P04035)
F6S (p.Phe6Ser) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
F6S (p.Phe6Ser) variant details
- p.Phe6Ser
- rs1338918395
- gnomAD 5-75342618-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 29.40
- Population evidence available
- Structural context available
- Literature evidence available