A13T (p.Ala13Thr) variant of ETFA (P13804)
A13T (p.Ala13Thr) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs769838321
- ClinGen CA7673896
- ClinVar RCV000513143
- ExAC rs769838321
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available