T11I (p.Thr11Ile) variant of MC4R (Melanocortin receptor 4)
T11I (p.Thr11Ile) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T11I (p.Thr11Ile) variant details
- p.Thr11Ile
- ExAC rs761529157
- TOPMed rs761529157
- gnomAD rs761529157
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.04
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available