T22A (p.Thr22Ala) variant of PTPN11 (Q06124)
T22A (p.Thr22Ala) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LEOPARD syndrome 1; Noonan syndrome 1; Juvenile myelomonocytic leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T22A (p.Thr22Ala) variant details
- p.Thr22Ala
- rs757537175
- ClinGen CA6798511
- ClinVar RCV001261096
- ClinVar RCV003539390
- Uncertain significance
- LEOPARD syndrome 1; Noonan syndrome 1; Juvenile myelomonocytic leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.37
- MetaLR 0.35
- MetaSVM -0.52
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (LEOPARD syndrome 1; Noonan syndrome 1; Juvenile myelomonocytic l)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)