A4S (p.Ala4Ser) variant of SOS2 (Son of sevenless homolog 2)
A4S (p.Ala4Ser) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- TOPMed rs1441953271
- gnomAD rs1441953271
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.21
- MetaLR 0.25
- MetaSVM -0.89
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Noonan syndrome 9)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available