A150S (p.Ala150Ser) variant of ETFA (P13804)
A150S (p.Ala150Ser) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A150S (p.Ala150Ser) variant details
- p.Ala150Ser
- Ensembl rs930199623
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available