N41S (p.Asn41Ser) variant of HMGCR (P04035)
N41S (p.Asn41Ser) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N41S (p.Asn41Ser) variant details
- p.Asn41Ser
- ExAC rs772179314
- gnomAD rs772179314
- Missense
- Variant Prioritization Score for Impact Estimate 0.0895
- REVEL 0.06
- CADD 7.89
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available