P1021S (p.Pro1021Ser) variant of CFTR (P13569)
P1021S (p.Pro1021Ser) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P1021S (p.Pro1021Ser) variant details
- p.Pro1021Ser
- rs397508491
- ClinGen CA327033
- ClinVar RCV000577484
- ClinVar RCV001826654
- Conflicting interpretations
- not specified; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.89
- MetaSVM 0.95
- CADD 25.20
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cystic fibrosis)
- 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)