D31H (p.Asp31His) variant of MECOM (Q03112)
D31H (p.Asp31His) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
D31H (p.Asp31His) variant details
- p.Asp31His
- cosmic curated COSV72110
- TOPMed rs1329169678
- gnomAD rs1329169678
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- CADD 18.20
- Most common in the African/African-American population (allele frequency 4.8e-05)