P491L (p.Pro491Leu) variant of PTPN11 (Q06124)
P491L (p.Pro491Leu) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PTPN11-related disorder; Noonan syndrome and Noonan-related syndrome; LEOPARD sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P491L (p.Pro491Leu) variant details
- p.Pro491Leu
- rs397507540
- ClinGen CA273407
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61004
- Pathogenic
- PTPN11-related disorder; Noonan syndrome and Noonan-related syndrome; LEOPARD sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.68
- AlphaMissense 0.96
- MetaLR 0.66
- MetaSVM 0.19
- CADD 23.20
- PolyPhen-2 0.97
- ClinVar: Pathogenic (PTPN11-related disorder; Noonan syndrome and Noonan-related synd)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)