T59A (p.Thr59Ala) variant of PTPN11 (Q06124)
T59A (p.Thr59Ala) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal dominant PTPN11-related disorders; PTPN11-related disorder; Cardiovasc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
T59A (p.Thr59Ala) variant details
- p.Thr59Ala
- rs886043790
- ClinGen CA10605950
- ClinVar RCV000390743
- ClinVar RCV001349385
- Conflicting interpretations
- Autosomal dominant PTPN11-related disorders; PTPN11-related disorder; Cardiovasc
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.71
- MetaLR 0.60
- MetaSVM 0.07
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Autosomal dominant PTPN11-related disorders; PTPN11-related diso)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. (PMID 19020799)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)