Q57Q (p.Gln57Gln) variant of PTPN11 (Q06124)
Q57Q (p.Gln57Gln) in PTPN11 (Q06124) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q57Q (p.Gln57Gln) variant details
- p.Gln57Gln
- rs2135862010
- gnomAD 12-112450351-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 1.00
- MetaLR 0.60
- MetaSVM 0.22
- CADD 9.98
- PolyPhen-2 0.89
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available