A613T (p.Ala613Thr) variant of CFTR (P13569)
A613T (p.Ala613Thr) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A613T (p.Ala613Thr) variant details
- p.Ala613Thr
- rs201978662
- ClinGen CA326697
- ClinVar RCV000577180
- ClinVar RCV002228156
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.83
- ESM-1b 0.00
- AlphaMissense 0.39
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis… (PMID 9736778)
- Cited in: Cystic Fibrosis. (PMID 20301428)