V23M (p.Val23Met) variant of RINL (Q6ZS11)
V23M (p.Val23Met) 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 0.12 / 1. The record also includes population frequency data.
V23M (p.Val23Met) variant details
- p.Val23Met
- rs770249044
- ExAC rs770249044
- TOPMed rs770249044
- gnomAD rs770249044
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 3.63
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available