A27T (p.Ala27Thr) variant of MC4R (Melanocortin receptor 4)
A27T (p.Ala27Thr) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- ExAC rs745919097
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.05
- CADD 13.70
- PolyPhen-2 0.02
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available