K28R (p.Lys28Arg) variant of SOS1 (Son of sevenless homolog 1)
K28R (p.Lys28Arg) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K28R (p.Lys28Arg) variant details
- p.Lys28Arg
- rs1057517867
- ClinGen CA16042460
- ClinVar RCV000413861
- Ensembl rs1057517867
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.17
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available