D43H (p.Asp43His) variant of SOS1 (Son of sevenless homolog 1)
D43H (p.Asp43His) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D43H (p.Asp43His) variant details
- p.Asp43His
- rs730881052
- ClinGen CA297289
- ClinVar RCV000159184
- ClinVar RCV002467501
- Uncertain significance
- Cardiovascular phenotype; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.62
- CADD 26.10
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)