A78V (p.Ala78Val) variant of MECOM (Q03112)
A78V (p.Ala78Val) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- gnomAD rs1234201261
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 20.90
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the South Asian population (allele frequency 0.00021)