G268C (p.Gly268Cys) variant of PTPN11 (Q06124)
G268C (p.Gly268Cys) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic short statue; PTPN11-related disorder; Autosomal dominant PTPN11-relat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G268C (p.Gly268Cys) variant details
- p.Gly268Cys
- rs397507527
- ClinGen CA261597
- ClinVar RCV000033502
- ClinVar RCV000037660
- Pathogenic/Likely pathogenic
- Monogenic short statue; PTPN11-related disorder; Autosomal dominant PTPN11-relat
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.06
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic short statue; PTPN11-related disorder; Autosomal domin)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)