N30H (p.Asn30His) variant of ETFA (P13804)
N30H (p.Asn30His) in ETFA (P13804) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
N30H (p.Asn30His) variant details
- p.Asn30His
- Ensembl rs2039810890
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 24.90
- PolyPhen-2 0.84
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available