P27L (p.Pro27Leu) variant of PAX8 (Paired box protein Pax-8)
P27L (p.Pro27Leu) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- cosmic curated COSV10809
- NCI-TCGA Cosmic COSV9964
- Ensembl rs1691364108
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.95
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available