R76Q (p.Arg76Gln) variant of MAGED2 (Melanoma-associated antigen D2)
R76Q (p.Arg76Gln) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R76Q (p.Arg76Gln) variant details
- p.Arg76Gln
- cosmic curated COSV54499
- ESP rs148790335
- ExAC rs148790335
- TOPMed rs148790335
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.03
- CADD 9.87
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the HGDP:MAYA population (allele frequency 0.028)
- Structural context available