A137S (p.Ala137Ser) variant of ETFA (P13804)
A137S (p.Ala137Ser) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A137S (p.Ala137Ser) variant details
- p.Ala137Ser
- ExAC rs772716576
- gnomAD rs772716576
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.23
- ESM-1b 0.65
- AlphaMissense 0.08
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available