R77S (p.Arg77Ser) variant of RINL (Q6ZS11)
R77S (p.Arg77Ser) in RINL (Q6ZS11) is a missense change. Clinical records from ClinVar 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 0.31 / 1. The record also includes population frequency data.
R77S (p.Arg77Ser) variant details
- p.Arg77Ser
- TOPMed rs1317198732
- gnomAD rs1317198732
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available