T38I (p.Thr38Ile) variant of MECOM (Q03112)
T38I (p.Thr38Ile) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
T38I (p.Thr38Ile) variant details
- p.Thr38Ile
- gnomAD rs1349174102
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 5.82
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the African/African-American population (allele frequency 4.8e-05)