S2C (p.Ser2Cys) variant of MAGED2 (Melanoma-associated antigen D2)
S2C (p.Ser2Cys) in MAGED2 (Melanoma-associated antigen D2) 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 0.36 / 1. The record also includes population frequency data and structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- rs1388401939
- NCI-TCGA Cosmic COSV5449
- cosmic curated COSV54497
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.10
- CADD 25.70
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available