S10N (p.Ser10Asn) variant of CFTR (P13569)
S10N (p.Ser10Asn) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S10N (p.Ser10Asn) variant details
- p.Ser10Asn
- rs762241850
- ClinGen CA164948918
- ClinVar RCV000507945
- ClinVar RCV000696094
- Uncertain significance
- Cystic fibrosis; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.53
- MetaSVM -0.44
- CADD 17.80
- ClinVar: Uncertain significance (Cystic fibrosis; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)