E161D (p.Glu161Asp) variant of ETFA (P13804)
E161D (p.Glu161Asp) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E161D (p.Glu161Asp) variant details
- p.Glu161Asp
- rs1331535487
- ClinGen CA393513709
- ClinVar RCV003225491
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available