T15S (p.Thr15Ser) variant of HMGCS2 (P54868)
T15S (p.Thr15Ser) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T15S (p.Thr15Ser) variant details
- p.Thr15Ser
- gnomAD rs1286736541
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.18
- CADD 6.88
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available