I138M (p.Ile138Met) variant of ETFA (P13804)
I138M (p.Ile138Met) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
I138M (p.Ile138Met) variant details
- p.Ile138Met
- gnomAD rs1179879689
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.37
- CADD 25.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available