N147D (p.Asn147Asp) variant of SOS2 (Son of sevenless homolog 2)
N147D (p.Asn147Asp) 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; Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
N147D (p.Asn147Asp) variant details
- p.Asn147Asp
- rs1435992315
- ClinGen CA389649596
- ClinVar RCV002333687
- ClinVar RCV003591938
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.70
- MetaLR 0.75
- MetaSVM 0.54
- CADD 24.70
- PolyPhen-2 0.91
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)