P491T (p.Pro491Thr) variant of PTPN11 (Q06124)
P491T (p.Pro491Thr) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; LEOPARD syndrome 1; Metachondromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P491T (p.Pro491Thr) variant details
- p.Pro491Thr
- rs397507539
- ClinGen CA261540
- ClinVar RCV000033535
- ClinVar RCV000208219
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; LEOPARD syndrome 1; Metachondromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.69
- CADD 23.60
- PolyPhen-2 0.22
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; LEOPARD syndrome 1; Metachondromatosis)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)