A70T (p.Ala70Thr) variant of MC4R (Melanocortin receptor 4)
A70T (p.Ala70Thr) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A70T (p.Ala70Thr) variant details
- p.Ala70Thr
- Ensembl rs2143967279
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.16
- MetaLR 0.02
- MetaSVM -1.03
- CADD 22.30
- PolyPhen-2 0.31
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available