S32C (p.Ser32Cys) variant of ETFA (P13804)
S32C (p.Ser32Cys) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S32C (p.Ser32Cys) variant details
- p.Ser32Cys
- ExAC rs774383988
- TOPMed rs774383988
- gnomAD rs774383988
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 24.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available