P30T (p.Pro30Thr) variant of MECOM (Q03112)
P30T (p.Pro30Thr) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- TOPMed rs1732375934
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 11.30
- PolyPhen-2 0.06
- SIFT 0.22
- Most common in the Middle Eastern population (allele frequency 0.00017)