P36L (p.Pro36Leu) variant of SOS2 (Son of sevenless homolog 2)
P36L (p.Pro36Leu) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar 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 0.86 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- gnomAD rs1276710063
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.86
- MetaLR 0.91
- MetaSVM 1.03
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available