S25T (p.Ser25Thr) variant of MC4R (Melanocortin receptor 4)
S25T (p.Ser25Thr) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S25T (p.Ser25Thr) variant details
- p.Ser25Thr
- gnomAD 18-60372276-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.02
- CADD 9.43
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available