N40S (p.Asn40Ser) variant of HMGCR (P04035)
N40S (p.Asn40Ser) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N40S (p.Asn40Ser) variant details
- p.Asn40Ser
- TOPMed rs1381654025
- gnomAD rs1381654025
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.11
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.76
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available