V64L (p.Val64Leu) variant of RINL (Q6ZS11)
V64L (p.Val64Leu) in RINL (Q6ZS11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
V64L (p.Val64Leu) variant details
- p.Val64Leu
- rs770580434
- 1000Genomes rs770580434
- TOPMed rs770580434
- gnomAD rs770580434
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available