E69V (p.Glu69Val) variant of PTPN11 (Q06124)
E69V (p.Glu69Val) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome; LEOPARD syndrome 1; Metachondromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
E69V (p.Glu69Val) variant details
- p.Glu69Val
- rs727503380
- ClinGen CA177668
- cosmic curated COSV61014
- ClinVar RCV000151687
- Pathogenic/Likely pathogenic
- Noonan syndrome; LEOPARD syndrome 1; Metachondromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome; LEOPARD syndrome 1; Metachondromatosis)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)