P102L (p.Pro102Leu) variant of SOS1 (Son of sevenless homolog 1)
P102L (p.Pro102Leu) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Noonan syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P102L (p.Pro102Leu) variant details
- p.Pro102Leu
- rs1553362937
- ClinGen CA346373861
- ClinVar RCV003335797
- cosmic curated COSV10533
- Likely pathogenic
- Noonan syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.71
- AlphaMissense 0.74
- MetaLR 0.71
- MetaSVM 0.44
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Noonan syndrome 4)
- EBI: Likely pathogenic (in NS4)
- UniProt: Likely pathogenic (in NS4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)