T87A (p.Thr87Ala) variant of MAGED2 (Melanoma-associated antigen D2)
T87A (p.Thr87Ala) in MAGED2 (Melanoma-associated antigen D2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T87A (p.Thr87Ala) variant details
- p.Thr87Ala
- gnomAD rs1408706654
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.03
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00039)
- Structural context available