S130Y (p.Ser130Tyr) variant of VSIR (Q9H7M9)
S130Y (p.Ser130Tyr) in VSIR (Q9H7M9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S130Y (p.Ser130Tyr) variant details
- p.Ser130Tyr
- TOPMed rs1001283730
- gnomAD rs1001283730
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.12
- CADD 22.50
- PolyPhen-2 0.36
- SIFT 0.46
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available