Y38H (p.Tyr38His) variant of CFTR (P13569)
Y38H (p.Tyr38His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Y38H (p.Tyr38His) variant details
- p.Tyr38His
- rs373112861
- ClinGen CA4450637
- ClinVar RCV002320681
- ClinVar RCV003120893
- Uncertain significance
- Cystic fibrosis; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.83
- ESM-1b 0.25
- AlphaMissense 0.39
- MetaLR 0.85
- MetaSVM 0.94
- CADD 26.70
- ClinVar: Uncertain significance (Cystic fibrosis; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)