A68T (p.Ala68Thr) variant of MC4R (Melanocortin receptor 4)
A68T (p.Ala68Thr) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Early onset severe obesity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- NCI-TCGA Cosmic COSV5535
- Uncertain significance
- Early onset severe obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.42
- MetaLR 0.10
- MetaSVM -1.08
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Early onset severe obesity)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available