E120K (p.Glu120Lys) variant of VSIR (Q9H7M9)
E120K (p.Glu120Lys) in VSIR (Q9H7M9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E120K (p.Glu120Lys) variant details
- p.Glu120Lys
- gnomAD rs1840392394
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.33
- CADD 22.20
- PolyPhen-2 0.49
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available