L11V (p.Leu11Val) variant of MAGED2 (Melanoma-associated antigen D2)
L11V (p.Leu11Val) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- gnomAD X-54809362-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0665
- REVEL 0.01
- CADD 7.15
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available