D124N (p.Asp124Asn) variant of VSIR (Q9H7M9)
D124N (p.Asp124Asn) in VSIR (Q9H7M9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D124N (p.Asp124Asn) variant details
- p.Asp124Asn
- ExAC rs760303333
- TOPMed rs760303333
- gnomAD rs760303333
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.19
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available