G22E (p.Gly22Glu) variant of MAP2K1 (Q02750)
G22E (p.Gly22Glu) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G22E (p.Gly22Glu) variant details
- p.Gly22Glu
- NCI-TCGA Cosmic COSV6107
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.49
- MetaLR 0.51
- MetaSVM -0.17
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-06)
- Structural context available