L63P (p.Leu63Pro) variant of RINL (Q6ZS11)
L63P (p.Leu63Pro) 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 0.61 / 1. The record also includes population frequency data.
L63P (p.Leu63Pro) variant details
- p.Leu63Pro
- Ensembl rs1972924540
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 23.10
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available