I36V (p.Ile36Val) variant of ETFA (P13804)
I36V (p.Ile36Val) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I36V (p.Ile36Val) variant details
- p.Ile36Val
- ExAC rs749076377
- gnomAD rs749076377
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available