D61N (p.Asp61Asn) variant of ETFA (P13804)
D61N (p.Asp61Asn) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D61N (p.Asp61Asn) variant details
- p.Asp61Asn
- ExAC rs746507946
- gnomAD rs746507946
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.02
- ESM-1b 0.71
- AlphaMissense 0.13
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available