S12Y (p.Ser12Tyr) variant of MC4R (Melanocortin receptor 4)
S12Y (p.Ser12Tyr) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S12Y (p.Ser12Tyr) variant details
- p.Ser12Tyr
- NCI-TCGA Cosmic COSV1002
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.04
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available