S3L (p.Ser3Leu) variant of PTPN11 (Q06124)
S3L (p.Ser3Leu) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- Ensembl rs2135817459
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.63
- MetaLR 0.91
- MetaSVM 1.01
- CADD 34.00
- PolyPhen-2 0.92
- SIFT 0.08
- Population evidence available
- Structural context available