L31W (p.Leu31Trp) variant of MAGED2 (Melanoma-associated antigen D2)
L31W (p.Leu31Trp) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L31W (p.Leu31Trp) variant details
- p.Leu31Trp
- ESP rs147495006
- ExAC rs147495006
- TOPMed rs147495006
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.18
- AlphaMissense 0.16
- MetaLR 0.17
- MetaSVM -0.96
- CADD 24.10
- PolyPhen-2 1.00
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available