S25L (p.Ser25Leu) variant of SOS2 (Son of sevenless homolog 2)
S25L (p.Ser25Leu) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S25L (p.Ser25Leu) variant details
- p.Ser25Leu
- rs1887534256
- ClinGen CA389657468
- ClinVar RCV001813717
- TOPMed rs1887534256
- Uncertain significance
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.26
- MetaLR 0.31
- MetaSVM -0.63
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Noonan syndrome and Noonan-related syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available