P25S (p.Pro25Ser) variant of SOS1 (Son of sevenless homolog 1)
P25S (p.Pro25Ser) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- rs139592595
- ClinGen CA181527
- ClinVar RCV000154848
- ClinVar RCV000521504
- Benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.21
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Benign (RASopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ESN population (allele frequency 0.019)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)