D73N (p.Asp73Asn) variant of MECOM (Q03112)
D73N (p.Asp73Asn) in MECOM (Q03112) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
D73N (p.Asp73Asn) variant details
- p.Asp73Asn
- rs761171278
- NCI-TCGA Cosmic COSV7211
- cosmic curated COSV72110
- ExAC rs761171278
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)