L7Q (p.Leu7Gln) variant of VSIR (Q9H7M9)
L7Q (p.Leu7Gln) in VSIR (Q9H7M9) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L7Q (p.Leu7Gln) variant details
- p.Leu7Gln
- 1000Genomes rs3747862
- ESP rs3747862
- ExAC rs3747862
- TOPMed rs3747862
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.03
- CADD 18.20
- PolyPhen-2 0.03
- SIFT 0.10
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available