T5I (p.Thr5Ile) variant of MC4R (Melanocortin receptor 4)
T5I (p.Thr5Ile) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- rs752432398
- ExAC rs752432398
- TOPMed rs752432398
- gnomAD rs752432398
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -0.99
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available