L66Q (p.Leu66Gln) variant of RINL (Q6ZS11)
L66Q (p.Leu66Gln) 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 0.13 / 1. The record also includes population frequency data.
L66Q (p.Leu66Gln) variant details
- p.Leu66Gln
- rs759612168
- TOPMed rs759612168
- gnomAD rs759612168
- ClinGen CA308150776
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 10.10
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available