I37V (p.Ile37Val) variant of CFTR (P13569)
I37V (p.Ile37Val) 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; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I37V (p.Ile37Val) variant details
- p.Ile37Val
- rs759721412
- ClinGen CA4450636
- ClinVar RCV000732401
- ClinVar RCV001855683
- Uncertain significance
- not provided; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM 0.31
- CADD 13.40
- ClinVar: Uncertain significance (not provided; Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- 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)