A461T (p.Ala461Thr) variant of PTPN11 (Q06124)
A461T (p.Ala461Thr) 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 0.89 / 1. The record also includes published literature and structural context.
A461T (p.Ala461Thr) variant details
- p.Ala461Thr
- rs121918468
- ClinGen CA261534
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV6100
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 0.98
- SIFT 0.02
- EVE 0.55
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in LPRD1)
- UniProt: Pathogenic (in LPRD1)
- Structural context available
- Cited in: Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. (PMID 15389709)
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)