Q57H (p.Gln57His) variant of PTPN11 (Q06124)
Q57H (p.Gln57His) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
Q57H (p.Gln57His) variant details
- p.Gln57His
- rs2135862010
- Ensembl rs2135862010
- ClinGen CA386777534
- ClinVar RCV001261097
- Likely pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 1.00
- MetaLR 0.60
- MetaSVM 0.22
- PolyPhen-2 0.89
- SIFT 0.05
- EVE 0.32
- ClinVar: Likely pathogenic (Noonan syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)