T85P (p.Thr85Pro) variant of HMGCS2 (P54868)
T85P (p.Thr85Pro) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
T85P (p.Thr85Pro) variant details
- p.Thr85Pro
- ExAC rs776664327
- gnomAD rs776664327
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.97
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available