T5N (p.Thr5Asn) variant of MC4R (Melanocortin receptor 4)
T5N (p.Thr5Asn) 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 0.27 / 1. The record also includes population frequency data and structural context.
T5N (p.Thr5Asn) variant details
- p.Thr5Asn
- rs752432398
- ClinGen CA8981007
- ClinVar RCV001174414
- ClinVar RCV002483938
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -0.99
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available