I37M (p.Ile37Met) variant of CFTR (P13569)
I37M (p.Ile37Met) in CFTR (P13569) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
I37M (p.Ile37Met) variant details
- p.Ile37Met
- NCI-TCGA Cosmic COSV5006
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.66
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.81
- MetaSVM 0.66
- CADD 22.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available