P57L (p.Pro57Leu) variant of GRIN2A (Q12879)
P57L (p.Pro57Leu) in GRIN2A (Q12879) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, published literature, and structural context.
P57L (p.Pro57Leu) variant details
- p.Pro57Leu
- Ensembl rs2142390203
- UniProt VAR 067725
- Uncertain significance
- Missense
- MetaLR 0.38
- MetaSVM -0.51
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Exome sequencing identifies GRIN2A as frequently mutated in melanoma. (PMID 21499247)