I56V (p.Ile56Val) variant of PTPN11 (Q06124)
I56V (p.Ile56Val) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
I56V (p.Ile56Val) variant details
- p.Ile56Val
- rs397507504
- ClinGen CA180973
- ClinVar RCV000154561
- ClinVar RCV000518841
- Pathogenic
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.77
- MetaLR 0.94
- MetaSVM 1.06
- CADD 24.90
- PolyPhen-2 0.44
- SIFT 0.10
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)