A168V (p.Ala168Val) variant of SOS2 (Son of sevenless homolog 2)
A168V (p.Ala168Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A168V (p.Ala168Val) variant details
- p.Ala168Val
- rs756399613
- ClinGen CA7177520
- NCI-TCGA Cosmic COSV5357
- cosmic curated COSV53570
- Conflicting interpretations
- Cardiovascular phenotype; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.76
- MetaLR 0.66
- MetaSVM 0.48
- CADD 26.30
- PolyPhen-2 0.60
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Noonan syndrome 9)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)