S44S (p.Ser44Ser) variant of PTPN11 (Q06124)
S44S (p.Ser44Ser) in PTPN11 (Q06124) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S44S (p.Ser44Ser) variant details
- p.Ser44Ser
- rs397507502
- gnomAD 12-112446393-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.74
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available
- Literature evidence available