A86V (p.Ala86Val) variant of SOS2 (Son of sevenless homolog 2)
A86V (p.Ala86Val) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A86V (p.Ala86Val) variant details
- p.Ala86Val
- rs146272145
- ClinGen CA7177572
- ClinVar RCV000801445
- ClinVar RCV002458466
- Conflicting interpretations
- Cardiovascular phenotype; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.79
- MetaLR 0.76
- MetaSVM 0.63
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)