S184G (p.Ser184Gly) variant of ETFA (P13804)
S184G (p.Ser184Gly) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S184G (p.Ser184Gly) variant details
- p.Ser184Gly
- TOPMed rs2039704736
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available