P102S (p.Pro102Ser) variant of SOS2 (Son of sevenless homolog 2)
P102S (p.Pro102Ser) 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 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P102S (p.Pro102Ser) variant details
- p.Pro102Ser
- rs2139783538
- ClinGen CA389649960
- cosmic curated COSV53566
- ClinVar RCV002000933
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.51
- MetaLR 0.50
- MetaSVM -0.14
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)