A461G (p.Ala461Gly) variant of PTPN11 (Q06124)
A461G (p.Ala461Gly) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
A461G (p.Ala461Gly) variant details
- p.Ala461Gly
- rs397509344
- ClinGen CA284665
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61005
- Conflicting interpretations
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; LEOPARD syndrome 1)
- EBI: Pathogenic (in LPRD1)
- UniProt: Pathogenic (in LPRD1)
- Structural context available
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)