L144* (p.Leu144Ter) variant of SOS2 (Son of sevenless homolog 2)
L144* (p.Leu144Ter) in SOS2 (Son of sevenless homolog 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L144* (p.Leu144Ter) variant details
- p.Leu144Ter
- rs1886425451
- ClinGen CA389649614
- ClinVar RCV002628819
- TOPMed rs1886425451
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)