I94V (p.Ile94Val) variant of SOS1 (Son of sevenless homolog 1)
I94V (p.Ile94Val) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I94V (p.Ile94Val) variant details
- p.Ile94Val
- rs144757941
- ClinGen CA1624825
- ClinVar RCV000523770
- ClinVar RCV000761049
- Likely benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.43
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Likely benign (RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)