L9P (p.Leu9Pro) variant of MAP2K2 (P36507)
L9P (p.Leu9Pro) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- rs758307267
- ClinGen CA9091114
- ClinVar RCV000704590
- ClinVar RCV000824941
- Uncertain significance
- not specified; RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.36
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.93
- CADD 24.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not specified; RASopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)