G181D (p.Gly181Asp) variant of ETFA (P13804)
G181D (p.Gly181Asp) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G181D (p.Gly181Asp) variant details
- p.Gly181Asp
- ExAC rs752263133
- gnomAD rs752263133
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.51
- ESM-1b 0.14
- AlphaMissense 0.41
- CADD 23.60
- PolyPhen-2 0.39
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available