I25T (p.Ile25Thr) variant of ETFA (P13804)
I25T (p.Ile25Thr) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
I25T (p.Ile25Thr) variant details
- p.Ile25Thr
- gnomAD rs1455092287
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available