N33K (p.Asn33Lys) variant of MAP2K2 (P36507)
N33K (p.Asn33Lys) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N33K (p.Asn33Lys) variant details
- p.Asn33Lys
- TOPMed rs940667388
- gnomAD rs940667388
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.35
- CADD 17.10
- PolyPhen-2 0.28
- SIFT 0.12
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available