L30P (p.Leu30Pro) variant of MAGED2 (Melanoma-associated antigen D2)
L30P (p.Leu30Pro) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- gnomAD X-54809765-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.14
- CADD 14.10
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available