A80V (p.Ala80Val) variant of MAGED2 (Melanoma-associated antigen D2)
A80V (p.Ala80Val) 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 0.18 / 1. The record also includes population frequency data and structural context.
A80V (p.Ala80Val) variant details
- p.Ala80Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.03
- CADD 6.48
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available