T143S (p.Thr143Ser) variant of ETFA (P13804)
T143S (p.Thr143Ser) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
T143S (p.Thr143Ser) variant details
- p.Thr143Ser
- ExAC rs779161256
- gnomAD rs779161256
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 23.70
- PolyPhen-2 0.25
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available