K42K (p.Lys42Lys) variant of HMGCR (P04035)
K42K (p.Lys42Lys) in HMGCR (P04035) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K42K (p.Lys42Lys) variant details
- p.Lys42Lys
- rs1760052673
- gnomAD 5-75342731-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 13.60
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available