M1T (p.Met1Thr) variant of CFTR (P13569)
M1T (p.Met1Thr) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CFTR-related disorder; Cystic fibrosis; Congenital bilateral aplasia of vas defe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs397508476
- ClinGen CA327005
- ClinVar RCV000046751
- ClinVar RCV001826652
- Pathogenic
- CFTR-related disorder; Cystic fibrosis; Congenital bilateral aplasia of vas defe
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- ESM-1b 0.60
- AlphaMissense 0.80
- MetaLR 0.59
- MetaSVM 0.20
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Pathogenic (CFTR-related disorder; Cystic fibrosis; Congenital bilateral apl)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)