E76V (p.Glu76Val) variant of PTPN11 (Q06124)
E76V (p.Glu76Val) 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; Autosomal dominant PTPN11-related d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E76V (p.Glu76Val) variant details
- p.Glu76Val
- rs121918465
- ClinGen CA123041
- NCI-TCGA Cosmic COSV6100
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; Autosomal dominant PTPN11-related d
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; Autosomal dominant)
- EBI: Pathogenic (in JMML)
- UniProt: Pathogenic (in JMML)
- Structural context available
- Cited in: Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. (PMID 12717436)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)