S28G (p.Ser28Gly) variant of PTPN11 (Q06124)
S28G (p.Ser28Gly) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- gnomAD 12-112446343-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.84
- MetaLR 0.81
- MetaSVM 0.79
- CADD 26.00
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available