p.Val69 Glu74del variant of MAGED2 (Melanoma-associated antigen D2)
p.Val69 Glu74del in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val69 Glu74del variant details
- rs781293899
- gnomAD X-54809875-ACAGAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 17.80
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available
- Literature evidence available