P35T (p.Pro35Thr) variant of ETFA (P13804)
P35T (p.Pro35Thr) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P35T (p.Pro35Thr) variant details
- p.Pro35Thr
- 1000Genomes rs181281750
- ESP rs181281750
- ExAC rs181281750
- TOPMed rs181281750
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.55
- ESM-1b 0.84
- AlphaMissense 0.13
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available