T99A (p.Thr99Ala) variant of ETFA (P13804)
T99A (p.Thr99Ala) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T99A (p.Thr99Ala) variant details
- p.Thr99Ala
- rs1189282229
- ClinGen CA393517023
- NCI-TCGA Cosmic COSV5121
- cosmic curated COSV51211
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.51
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)