N104H (p.Asn104His) variant of ETFA (P13804)
N104H (p.Asn104His) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N104H (p.Asn104His) variant details
- p.Asn104His
- TOPMed rs1354828653
- gnomAD rs1354828653
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 24.30
- PolyPhen-2 0.66
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available