A32T (p.Ala32Thr) variant of HMGCS2 (P54868)
A32T (p.Ala32Thr) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- ExAC rs755897068
- gnomAD rs755897068
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.07
- CADD 10.30
- PolyPhen-2 0.04
- SIFT 0.13
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available