D6G (p.Asp6Gly) variant of RINL (Q6ZS11)
D6G (p.Asp6Gly) in RINL (Q6ZS11) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
D6G (p.Asp6Gly) variant details
- p.Asp6Gly
- TOPMed rs1275298076
- gnomAD rs1275298076
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available