A38D (p.Ala38Asp) variant of PAX8 (Paired box protein Pax-8)
A38D (p.Ala38Asp) 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 0.90 / 1. The record also includes population frequency data and structural context.
A38D (p.Ala38Asp) variant details
- p.Ala38Asp
- NCI-TCGA Cosmic COSV9963
- cosmic curated COSV99639
- Ensembl rs1691360136
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.97
- CADD 28.00
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available