S76L (p.Ser76Leu) variant of VSIR (Q9H7M9)
S76L (p.Ser76Leu) in VSIR (Q9H7M9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S76L (p.Ser76Leu) variant details
- p.Ser76Leu
- 1000Genomes rs572650329
- ExAC rs572650329
- TOPMed rs572650329
- gnomAD rs572650329
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.04
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the 1KG:ITU population (allele frequency 0.015)
- Structural context available