P43Q (p.Pro43Gln) variant of MAGED2 (Melanoma-associated antigen D2)
P43Q (p.Pro43Gln) in MAGED2 (Melanoma-associated antigen D2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P43Q (p.Pro43Gln) variant details
- p.Pro43Gln
- ESP rs201160051
- ExAC rs201160051
- TOPMed rs201160051
- gnomAD rs201160051
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.06
- CADD 14.50
- PolyPhen-2 0.77
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available