S179R (p.Ser179Arg) variant of ETFA (P13804)
S179R (p.Ser179Arg) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S179R (p.Ser179Arg) variant details
- p.Ser179Arg
- Ensembl rs1167865286
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.35
- CADD 22.70
- PolyPhen-2 0.14
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available