V428L (p.Val428Leu) variant of PTPN11 (Q06124)
V428L (p.Val428Leu) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Noonan syndrome 1; LEOPARD syndrome 1; Metachondromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
V428L (p.Val428Leu) variant details
- p.Val428Leu
- rs397507536
- ClinGen CA386777256
- ClinVar RCV001056808
- ClinVar RCV001788413
- Conflicting interpretations
- Noonan syndrome 1; LEOPARD syndrome 1; Metachondromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.98
- CADD 26.70
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome 1; not provided; RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)