P102R (p.Pro102Arg) variant of SOS1 (Son of sevenless homolog 1)
P102R (p.Pro102Arg) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of RASopathy; not provided; Noonan syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
P102R (p.Pro102Arg) variant details
- p.Pro102Arg
- rs1553362937
- ClinGen CA346373860
- NCI-TCGA Cosmic COSV6767
- cosmic curated COSV67676
- Pathogenic/Likely pathogenic
- RASopathy; not provided; Noonan syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 0.74
- MetaLR 0.71
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (RASopathy; not provided; Noonan syndrome 4)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Structural context available
- Cited in: Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. (PMID 19953625)
- Cited in: Noonan Syndrome. (PMID 20301303)