G8A (p.Gly8Ala) variant of MAGED2 (Melanoma-associated antigen D2)
G8A (p.Gly8Ala) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G8A (p.Gly8Ala) variant details
- p.Gly8Ala
- gnomAD rs1432705662
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.07
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available