R501K (p.Arg501Lys) variant of PTPN11 (Q06124)
R501K (p.Arg501Lys) 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; Microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R501K (p.Arg501Lys) variant details
- p.Arg501Lys
- rs397507543
- ClinGen CA261549
- cosmic curated COSV61007
- ClinVar RCV000033541
- Pathogenic/Likely pathogenic
- Monogenic short statue; Cardiovascular phenotype; Microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.94
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic short statue; Cardiovascular phenotype; Microcephaly)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (PMID 11992261)
- Cited in: Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder… (PMID 31134136)