T6I (p.Thr6Ile) variant of HMGCS2 (P54868)
T6I (p.Thr6Ile) 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.
T6I (p.Thr6Ile) variant details
- p.Thr6Ile
- TOPMed rs1189194662
- gnomAD rs1189194662
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.24
- CADD 22.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available