T38I (p.Thr38Ile) variant of HMGCS2 (P54868)
T38I (p.Thr38Ile) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T38I (p.Thr38Ile) variant details
- p.Thr38Ile
- gnomAD rs1282393883
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.25
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available