Y149C (p.Tyr149Cys) variant of ETFA (P13804)
Y149C (p.Tyr149Cys) in ETFA (P13804) is a missense change. Clinical records from ClinVar 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 0.85 / 1. The record also includes population frequency data and structural context.
Y149C (p.Tyr149Cys) variant details
- p.Tyr149Cys
- gnomAD rs2039717185
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 29.70
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available