R42L (p.Arg42Leu) variant of RINL (Q6ZS11)
R42L (p.Arg42Leu) 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 0.33 / 1. The record also includes population frequency data.
R42L (p.Arg42Leu) variant details
- p.Arg42Leu
- ExAC rs757988457
- TOPMed rs757988457
- gnomAD rs757988457
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 23.70
- PolyPhen-2 0.69
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available