T71S (p.Thr71Ser) variant of HMGCS2 (P54868)
T71S (p.Thr71Ser) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T71S (p.Thr71Ser) variant details
- p.Thr71Ser
- TOPMed rs1571042738
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.19
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available