D73V (p.Asp73Val) variant of MECOM (Q03112)
D73V (p.Asp73Val) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
D73V (p.Asp73Val) variant details
- p.Asp73Val
- TOPMed rs1295334491
- gnomAD rs1295334491
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)