P36A (p.Pro36Ala) variant of SOS2 (Son of sevenless homolog 2)
P36A (p.Pro36Ala) 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 Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P36A (p.Pro36Ala) variant details
- p.Pro36Ala
- rs2503209915
- ClinGen CA389651496
- ClinVar RCV003756430
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.83
- MetaLR 0.88
- MetaSVM 0.94
- CADD 25.90
- PolyPhen-2 0.81
- SIFT 0.21
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)