T38N (p.Thr38Asn) variant of MECOM (Q03112)
T38N (p.Thr38Asn) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
T38N (p.Thr38Asn) variant details
- p.Thr38Asn
- gnomAD rs1349174102
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 3.38
- PolyPhen-2 0.06
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)