V11I (p.Val11Ile) variant of CFTR (P13569)
V11I (p.Val11Ile) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bronchiectasis with or without elevated sweat chloride 1; Congenital bilateral a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V11I (p.Val11Ile) variant details
- p.Val11Ile
- rs1800072
- ClinGen CA4450601
- ClinVar RCV000630460
- ClinVar RCV001002302
- Uncertain significance
- Bronchiectasis with or without elevated sweat chloride 1; Congenital bilateral a
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.85
- CADD 21.20
- ClinVar: Uncertain significance (Bronchiectasis with or without elevated sweat chloride 1; Congen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)