P491H (p.Pro491His) variant of PTPN11 (Q06124)
P491H (p.Pro491His) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic short statue; Cardiovascular phenotype; Noonan syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
P491H (p.Pro491His) variant details
- p.Pro491His
- rs397507540
- ClinGen CA261546
- cosmic curated COSV10650
- NCI-TCGA Cosmic COSV6100
- Pathogenic/Likely pathogenic
- Monogenic short statue; Cardiovascular phenotype; Noonan syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.96
- MetaLR 0.66
- MetaSVM 0.19
- PolyPhen-2 0.97
- SIFT 0.06
- EVE 0.14
- ClinVar: Pathogenic/Likely pathogenic (Monogenic short statue; Cardiovascular phenotype; Noonan syndrom)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- 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)