I132S (p.Ile132Ser) variant of ETFA (P13804)
I132S (p.Ile132Ser) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
I132S (p.Ile132Ser) variant details
- p.Ile132Ser
- gnomAD rs1368500620
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available