G21R (p.Gly21Arg) variant of MAP2K2 (P36507)
G21R (p.Gly21Arg) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs2512327845
- ClinGen CA403395975
- ClinVar RCV003655889
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.39
- AlphaMissense 0.13
- MetaLR 0.25
- MetaSVM -0.64
- CADD 23.20
- PolyPhen-2 0.41
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available