D48H (p.Asp48His) variant of HMGCS2 (P54868)
D48H (p.Asp48His) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D48H (p.Asp48His) variant details
- p.Asp48His
- Ensembl rs199670317
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.21
- CADD 22.60
- PolyPhen-2 0.52
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available