S10R (p.Ser10Arg) variant of CFTR (P13569)
S10R (p.Ser10Arg) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
S10R (p.Ser10Arg) variant details
- p.Ser10Arg
- gnomAD rs1369001389
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.82
- MetaSVM 0.85
- CADD 24.80
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available