I96T (p.Ile96Thr) variant of ETFA (P13804)
I96T (p.Ile96Thr) in ETFA (P13804) 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.
I96T (p.Ile96Thr) variant details
- p.Ile96Thr
- ExAC rs758555036
- TOPMed rs758555036
- gnomAD rs758555036
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 27.00
- PolyPhen-2 0.57
- SIFT 0.01
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available