S45C (p.Ser45Cys) variant of CFTR (P13569)
S45C (p.Ser45Cys) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S45C (p.Ser45Cys) variant details
- p.Ser45Cys
- rs1798380222
- ClinGen CA368987358
- ClinVar RCV001194369
- ClinVar RCV001828606
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.86
- MetaSVM 0.92
- CADD 25.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available