T77S (p.Thr77Ser) variant of SOS2 (Son of sevenless homolog 2)
T77S (p.Thr77Ser) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Noonan syndrome 9; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T77S (p.Thr77Ser) variant details
- p.Thr77Ser
- rs565261873
- ClinGen CA7177575
- ClinVar RCV001295786
- ClinVar RCV005278795
- Conflicting interpretations
- Cardiovascular phenotype; Noonan syndrome 9; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.43
- MetaLR 0.30
- MetaSVM -0.64
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.52
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Noonan syndrome 9; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)