G49G (p.Gly49Gly) variant of PTPN11 (Q06124)
G49G (p.Gly49Gly) in PTPN11 (Q06124) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G49G (p.Gly49Gly) variant details
- p.Gly49Gly
- rs2135861881
- gnomAD 12-112450327-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 12.50
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available