Q178H (p.Gln178His) variant of SOS2 (Son of sevenless homolog 2)
Q178H (p.Gln178His) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q178H (p.Gln178His) variant details
- p.Gln178His
- rs2139734609
- ClinGen CA389648318
- ClinVar RCV001988284
- Ensembl rs2139734609
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.54
- MetaLR 0.28
- MetaSVM -0.59
- CADD 16.20
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)