D177G (p.Asp177Gly) variant of SOS2 (Son of sevenless homolog 2)
D177G (p.Asp177Gly) 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.
D177G (p.Asp177Gly) variant details
- p.Asp177Gly
- rs1313632636
- ClinGen CA389648328
- ClinVar RCV001261118
- ClinVar RCV001563672
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.46
- MetaLR 0.36
- MetaSVM -0.56
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)