M52I (p.Met52Ile) variant of CHAMP1 (Q96JM3)
M52I (p.Met52Ile) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
M52I (p.Met52Ile) variant details
- p.Met52Ile
- TOPMed rs1421943883
- gnomAD rs1421943883
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.44
- MetaLR 0.00
- MetaSVM -0.92
- CADD 20.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available