I63T (p.Ile63Thr) variant of MC4R (Melanocortin receptor 4)
I63T (p.Ile63Thr) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I63T (p.Ile63Thr) variant details
- p.Ile63Thr
- gnomAD 18-60372162-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.28
- MetaLR 0.03
- MetaSVM -1.20
- CADD 24.80
- PolyPhen-2 0.86
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available