L13R (p.Leu13Arg) variant of PAX8 (Paired box protein Pax-8)
L13R (p.Leu13Arg) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L13R (p.Leu13Arg) variant details
- p.Leu13Arg
- Ensembl rs1691366611
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.94
- CADD 28.70
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available