A90V (p.Ala90Val) variant of MECOM (Q03112)
A90V (p.Ala90Val) 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 0.43 / 1. The record also includes population frequency data.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- rs878869476
- Ensembl rs878869476
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)