I94V (p.Ile94Val) variant of SOS2 (Son of sevenless homolog 2)
I94V (p.Ile94Val) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I94V (p.Ile94Val) variant details
- p.Ile94Val
- rs2503193412
- ClinGen CA389650108
- ClinVar RCV003756280
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.40
- MetaLR 0.58
- MetaSVM 0.01
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)