K52Q (p.Lys52Gln) variant of MAP2K2 (P36507)
K52Q (p.Lys52Gln) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of RASopathy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
K52Q (p.Lys52Gln) variant details
- p.Lys52Gln
- rs374336702
- ClinGen CA9091085
- ClinVar RCV001306589
- ClinVar RCV004699293
- Conflicting interpretations
- RASopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.57
- AlphaMissense 0.54
- MetaLR 0.51
- MetaSVM -0.38
- CADD 23.70
- PolyPhen-2 0.61
- ClinVar: Conflicting classifications of pathogenicity (RASopathy; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available