R108Q (p.Arg108Gln) variant of MAP2K1 (Q02750)
R108Q (p.Arg108Gln) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R108Q (p.Arg108Gln) variant details
- p.Arg108Gln
- rs727504819
- ClinGen CA184279
- NCI-TCGA Cosmic COSV6106
- ClinVar RCV000156157
- Uncertain significance
- Cardiovascular phenotype; not specified; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.73
- AlphaMissense 0.90
- MetaLR 0.73
- MetaSVM 0.37
- CADD 32.00
- PolyPhen-2 0.95
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available