D45V (p.Asp45Val) variant of CHAMP1 (Q96JM3)
D45V (p.Asp45Val) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D45V (p.Asp45Val) variant details
- p.Asp45Val
- TOPMed rs1471274493
- gnomAD rs1471274493
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.88
- MetaLR 0.02
- MetaSVM -0.79
- CADD 26.40
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available