A50T (p.Ala50Thr) variant of PTPN11 (Q06124)
A50T (p.Ala50Thr) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- rs587778636
- ClinGen CA161779
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61007
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.31
- MetaLR 0.48
- MetaSVM -0.20
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.60
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available