R49H (p.Arg49His) variant of PAX8 (Paired box protein Pax-8)
R49H (p.Arg49His) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
R49H (p.Arg49His) variant details
- p.Arg49His
- rs370069552
- NCI-TCGA Cosmic COSV9963
- cosmic curated COSV99639
- ESP rs370069552
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.97
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available