S32F (p.Ser32Phe) variant of ETFA (P13804)
S32F (p.Ser32Phe) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S32F (p.Ser32Phe) variant details
- p.Ser32Phe
- ExAC rs774383988
- TOPMed rs774383988
- gnomAD rs774383988
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 24.60
- PolyPhen-2 0.32
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available