D6A (p.Asp6Ala) variant of RINL (Q6ZS11)
D6A (p.Asp6Ala) in RINL (Q6ZS11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
D6A (p.Asp6Ala) variant details
- p.Asp6Ala
- rs1275298076
- TOPMed rs1275298076
- gnomAD rs1275298076
- ClinGen CA405727881
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 16.30
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available