G28D (p.Gly28Asp) variant of MAP2K2 (P36507)
G28D (p.Gly28Asp) 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 0.48 / 1. The record also includes population frequency data and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- rs763455417
- ClinGen CA9091104
- ClinVar RCV002711397
- ExAC rs763455417
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.33
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.09
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- Structural context available