P22T (p.Pro22Thr) variant of MECOM (Q03112)
P22T (p.Pro22Thr) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- cosmic curated COSV72111
- TOPMed rs1229196026
- gnomAD rs1229196026
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 8.75
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)