K42N (p.Lys42Asn) variant of HMGCR (P04035)
K42N (p.Lys42Asn) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K42N (p.Lys42Asn) variant details
- p.Lys42Asn
- gnomAD 5-75342731-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available