P80L (p.Pro80Leu) variant of BTK (Tyrosine-protein kinase BTK)
P80L (p.Pro80Leu) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P80L (p.Pro80Leu) variant details
- p.Pro80Leu
- rs1400251682
- ClinGen CA413938618
- ClinVar RCV003511478
- TOPMed rs1400251682
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.21
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available