p.Ala48 Lys53del variant of MAGED2 (Melanoma-associated antigen D2)
p.Ala48 Lys53del in MAGED2 (Melanoma-associated antigen D2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala48 Lys53del variant details
- gnomAD X-54809861-GGGTCT
- Splice Acceptor
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 15.30
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available