A78S (p.Ala78Ser) variant of MECOM (Q03112)
A78S (p.Ala78Ser) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
A78S (p.Ala78Ser) variant details
- p.Ala78Ser
- Ensembl rs1732348982
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)