N47N (p.Asn47Asn) variant of HMGCR (P04035)
N47N (p.Asn47Asn) in HMGCR (P04035) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
N47N (p.Asn47Asn) variant details
- p.Asn47Asn
- gnomAD 5-75342746-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 12.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available