I36M (p.Ile36Met) variant of CHAMP1 (Q96JM3)
I36M (p.Ile36Met) in CHAMP1 (Q96JM3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I36M (p.Ile36Met) variant details
- p.Ile36Met
- rs1405856923
- ClinGen CA388845033
- ClinVar RCV001765781
- TOPMed rs1405856923
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.01
- MetaSVM -0.89
- CADD 22.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available