S10T (p.Ser10Thr) variant of CFTR (P13569)
S10T (p.Ser10Thr) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S10T (p.Ser10Thr) variant details
- p.Ser10Thr
- rs762241850
- ClinGen CA368981240
- ClinVar RCV001938732
- TOPMed rs762241850
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.34
- ESM-1b 0.11
- AlphaMissense 0.11
- MetaLR 0.75
- MetaSVM 0.17
- CADD 23.10
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- 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)