H154Q (p.His154Gln) variant of SOS2 (Son of sevenless homolog 2)
H154Q (p.His154Gln) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H154Q (p.His154Gln) variant details
- p.His154Gln
- rs528048319
- ClinGen CA7177521
- ClinVar RCV003880713
- 1000Genomes rs528048319
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.57
- MetaLR 0.40
- MetaSVM -0.25
- CADD 23.60
- PolyPhen-2 0.96
- SIFT 0.09
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)