N122H (p.Asn122His) variant of MAP2K1 (Q02750)
N122H (p.Asn122His) in MAP2K1 (Q02750) 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 0.57 / 1. The record also includes population frequency data and structural context.
N122H (p.Asn122His) variant details
- p.Asn122His
- Ensembl rs876657651
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.65
- AlphaMissense 0.88
- MetaLR 0.16
- MetaSVM -0.92
- CADD 24.30
- PolyPhen-2 0.89
- ClinVar: Uncertain significance (RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available