R31C (p.Arg31Cys) variant of CFTR (P13569)
R31C (p.Arg31Cys) in CFTR (P13569) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R31C (p.Arg31Cys) variant details
- p.Arg31Cys
- rs1800073
- ClinGen CA325716
- ClinVar RCV000029548
- ClinVar RCV000251973
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.67
- ESM-1b 0.51
- AlphaMissense 0.11
- MetaLR 0.83
- MetaSVM 0.75
- CADD 27.10
- EBI: Likely benign (in dbSNP:rs1800073)
- UniProt: Likely benign (in dbSNP:rs1800073)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance… (PMID 7522211)
- Cited in: Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. (PMID 9921909)