P112R (p.Pro112Arg) variant of SOS1 (Son of sevenless homolog 1)
P112R (p.Pro112Arg) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of RASopathy; Noonan syndrome. 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.
P112R (p.Pro112Arg) variant details
- p.Pro112Arg
- rs397517166
- ClinGen CA261741
- cosmic curated COSV67674
- ClinVar RCV000038549
- Conflicting interpretations
- RASopathy; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.35
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (RASopathy; Noonan syndrome)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and… (PMID 21387466)
- Cited in: Noonan Syndrome. (PMID 20301303)