P17L (p.Pro17Leu) variant of SOS2 (Son of sevenless homolog 2)
P17L (p.Pro17Leu) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- rs1015229594
- ClinGen CA260740003
- ClinVar RCV004154054
- TOPMed rs1015229594
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.16
- MetaLR 0.32
- MetaSVM -0.66
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-06)
- Structural context available