I138V (p.Ile138Val) variant of ETFA (P13804)
I138V (p.Ile138Val) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I138V (p.Ile138Val) variant details
- p.Ile138Val
- Ensembl rs1567216400
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.00
- PolyPhen-2 0.04
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available