M952T (p.Met952Thr) variant of CFTR (P13569)
M952T (p.Met952Thr) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
M952T (p.Met952Thr) variant details
- p.Met952Thr
- rs142773283
- ClinGen CA326944
- ClinVar RCV000046702
- ClinVar RCV000587345
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.86
- MetaSVM 0.92
- CADD 25.50
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Likely pathogenic (in CF and CBAVD)
- UniProt: Likely pathogenic (in CF and CBAVD)
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)