P7T (p.Pro7Thr) variant of SOS2 (Son of sevenless homolog 2)
P7T (p.Pro7Thr) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- rs1887536522
- ClinGen CA389657658
- ClinVar RCV003755831
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.20
- MetaLR 0.37
- MetaSVM -0.74
- CADD 19.60
- PolyPhen-2 0.04
- SIFT 0.89
- 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)