T38P (p.Thr38Pro) variant of MECOM (Q03112)
T38P (p.Thr38Pro) 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.
T38P (p.Thr38Pro) variant details
- p.Thr38Pro
- ExAC rs751599149
- TOPMed rs751599149
- gnomAD rs751599149
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 4.41
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)