R49C (p.Arg49Cys) variant of PAX8 (Paired box protein Pax-8)
R49C (p.Arg49Cys) 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 0.99 / 1. The record also includes population frequency data and structural context.
R49C (p.Arg49Cys) variant details
- p.Arg49Cys
- rs755170424
- NCI-TCGA Cosmic COSV5450
- cosmic curated COSV54506
- ExAC rs755170424
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available