I48V (p.Ile48Val) variant of SOS2 (Son of sevenless homolog 2)
I48V (p.Ile48Val) 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 SOS2-related disorder; Noonan syndrome 9; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- rs763552267
- ClinGen CA7177602
- ClinVar RCV000366863
- ClinVar RCV003422189
- Conflicting interpretations
- SOS2-related disorder; Noonan syndrome 9; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.30
- MetaLR 0.21
- MetaSVM -0.84
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (SOS2-related disorder; Noonan syndrome 9; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)