P79L (p.Pro79Leu) variant of RINL (Q6ZS11)
P79L (p.Pro79Leu) 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 0.37 / 1. The record also includes population frequency data.
P79L (p.Pro79Leu) variant details
- p.Pro79Leu
- rs768863302
- ExAC rs768863302
- TOPMed rs768863302
- gnomAD rs768863302
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available