G464A (p.Gly464Ala) variant of PTPN11 (Q06124)
G464A (p.Gly464Ala) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G464A (p.Gly464Ala) variant details
- p.Gly464Ala
- rs121918469
- ClinGen CA220131
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61008
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in LPRD1)
- UniProt: Pathogenic (in LPRD1)
- Structural context available
- Cited in: Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. (PMID 15121796)
- Cited in: Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. (PMID 15389709)