P7S (p.Pro7Ser) variant of SOS2 (Son of sevenless homolog 2)
P7S (p.Pro7Ser) 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 0.37 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- cosmic curated COSV53568
- TOPMed rs1887536522
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.23
- MetaLR 0.40
- MetaSVM -0.71
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.77
- ClinVar: Uncertain significance (Noonan syndrome 9)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available