N104K (p.Asn104Lys) variant of ETFA (P13804)
N104K (p.Asn104Lys) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N104K (p.Asn104Lys) variant details
- p.Asn104Lys
- TOPMed rs1432732280
- gnomAD rs1432732280
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available