Q178P (p.Gln178Pro) variant of SOS2 (Son of sevenless homolog 2)
Q178P (p.Gln178Pro) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q178P (p.Gln178Pro) variant details
- p.Gln178Pro
- rs1273376869
- ClinGen CA389648322
- ClinVar RCV000652819
- ClinVar RCV004992447
- Uncertain significance
- Noonan syndrome 9; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.66
- MetaLR 0.32
- MetaSVM -0.39
- CADD 23.70
- PolyPhen-2 0.33
- SIFT 0.00
- ClinVar: Uncertain significance (Noonan syndrome 9; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)