K121R (p.Lys121Arg) variant of SOS2 (Son of sevenless homolog 2)
K121R (p.Lys121Arg) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K121R (p.Lys121Arg) variant details
- p.Lys121Arg
- rs1456011298
- ClinGen CA389649766
- ClinVar RCV001932681
- TOPMed rs1456011298
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.33
- MetaLR 0.26
- MetaSVM -0.63
- CADD 23.70
- PolyPhen-2 0.60
- SIFT 0.02
- 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 4.8e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)