P30L (p.Pro30Leu) variant of RINL (Q6ZS11)
P30L (p.Pro30Leu) 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 0.21 / 1. The record also includes population frequency data.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- rs1276409264
- ClinGen CA405727710
- ClinVar RCV004177241
- TOPMed rs1276409264
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 5.39
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available