A50P (p.Ala50Pro) variant of PTPN11 (Q06124)
A50P (p.Ala50Pro) in PTPN11 (Q06124) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A50P (p.Ala50Pro) variant details
- p.Ala50Pro
- ExAC rs587778636
- gnomAD rs587778636
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.52
- MetaLR 0.59
- MetaSVM 0.23
- CADD 23.80
- PolyPhen-2 0.21
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available