V69A (p.Val69Ala) variant of MAGED2 (Melanoma-associated antigen D2)
V69A (p.Val69Ala) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V69A (p.Val69Ala) variant details
- p.Val69Ala
- gnomAD X-54809882-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.06
- CADD 22.50
- PolyPhen-2 0.90
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available