T171I (p.Thr171Ile) variant of ETFA (P13804)
T171I (p.Thr171Ile) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T171I (p.Thr171Ile) variant details
- p.Thr171Ile
- rs1801591
- ClinGen CA285317
- cosmic curated COSV51211
- ClinVar RCV000078134
- Benign/Likely benign
- not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign/Likely benign (not specified; not provided; Multiple acyl-CoA dehydrogenase def)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 0.5)
- Structural context available
- Cited in: A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal… (PMID 10356313)
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)