F71V (p.Phe71Val) variant of PTPN11 (Q06124)
F71V (p.Phe71Val) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Noonan syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
F71V (p.Phe71Val) variant details
- p.Phe71Val
- rs397507512
- ClinGen CA297073
- cosmic curated COSV10465
- ClinVar RCV000159044
- Pathogenic
- not provided; Noonan syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (not provided; Noonan syndrome 1)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)