A78T (p.Ala78Thr) variant of MECOM (Q03112)
A78T (p.Ala78Thr) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- Ensembl rs1732348982
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)