P139S (p.Pro139Ser) variant of RINL (Q6ZS11)
P139S (p.Pro139Ser) 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 0.77 / 1. The record also includes population frequency data.
P139S (p.Pro139Ser) variant details
- p.Pro139Ser
- rs368954450
- 1000Genomes rs368954450
- TOPMed rs368954450
- gnomAD rs368954450
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available