T91S (p.Thr91Ser) variant of HMGCS2 (P54868)
T91S (p.Thr91Ser) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T91S (p.Thr91Ser) variant details
- p.Thr91Ser
- 1000Genomes rs587697520
- TOPMed rs587697520
- gnomAD rs587697520
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.18
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available