N78D (p.Asn78Asp) variant of HMGCS2 (P54868)
N78D (p.Asn78Asp) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N78D (p.Asn78Asp) variant details
- p.Asn78Asp
- ExAC rs766584879
- gnomAD rs766584879
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.24
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available