I135T (p.Ile135Thr) variant of HMGCS2 (P54868)
I135T (p.Ile135Thr) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
I135T (p.Ile135Thr) variant details
- p.Ile135Thr
- cosmic curated COSV10102
- gnomAD rs1350489274
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.89
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available