T12A (p.Thr12Ala) variant of PTPN11 (Q06124)
T12A (p.Thr12Ala) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T12A (p.Thr12Ala) variant details
- p.Thr12Ala
- rs1386827892
- ClinGen CA386776158
- ClinVar RCV001893199
- gnomAD rs1386827892
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.51
- MetaLR 0.85
- MetaSVM 0.63
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available