M27V (p.Met27Val) variant of MAGED2 (Melanoma-associated antigen D2)
M27V (p.Met27Val) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
M27V (p.Met27Val) variant details
- p.Met27Val
- 1000Genomes rs200706314
- ExAC rs200706314
- gnomAD rs200706314
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.06
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the HGDP:JAPANESE population (allele frequency 0.028)
- Structural context available