V69I (p.Val69Ile) variant of MAGED2 (Melanoma-associated antigen D2)
V69I (p.Val69Ile) 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.
V69I (p.Val69Ile) variant details
- p.Val69Ile
- TOPMed rs1415027568
- gnomAD rs1415027568
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.09
- CADD 22.00
- PolyPhen-2 0.85
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available