K21E (p.Lys21Glu) variant of MAGED2 (Melanoma-associated antigen D2)
K21E (p.Lys21Glu) in MAGED2 (Melanoma-associated antigen D2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
K21E (p.Lys21Glu) variant details
- p.Lys21Glu
- rs1322233424
- ClinGen CA413264251
- ClinVar RCV002780593
- TOPMed rs1322233424
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.02
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.74
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.7e-05)
- Structural context available