A83V (p.Ala83Val) variant of MAGED2 (Melanoma-associated antigen D2)
A83V (p.Ala83Val) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A83V (p.Ala83Val) variant details
- p.Ala83Val
- TOPMed rs1266898191
- gnomAD rs1266898191
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.02
- CADD 13.60
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available