M952V (p.Met952Val) variant of CFTR (P13569)
M952V (p.Met952Val) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
M952V (p.Met952Val) variant details
- p.Met952Val
- rs2485122354
- ClinGen CA368987312
- ClinVar RCV002435404
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 24.80
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance (in CF and CBAVD)
- UniProt: Uncertain significance (in CF and CBAVD)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)