E46K (p.Glu46Lys) variant of VSIR (Q9H7M9)
E46K (p.Glu46Lys) in VSIR (Q9H7M9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs149997496
- ESP rs149997496
- TOPMed rs149997496
- gnomAD rs149997496
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.50
- CADD 25.40
- PolyPhen-2 0.69
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available