A18V (p.Ala18Val) variant of MAGED2 (Melanoma-associated antigen D2)
A18V (p.Ala18Val) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- Ensembl rs1929737611
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.04
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available