P17S (p.Pro17Ser) variant of SOS2 (Son of sevenless homolog 2)
P17S (p.Pro17Ser) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- rs750929787
- ClinGen CA389657520
- ClinVar RCV001925067
- ExAC rs750929787
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.17
- MetaLR 0.35
- MetaSVM -0.76
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)