R31C (p.Arg31Cys) variant of PAX8 (Paired box protein Pax-8)
R31C (p.Arg31Cys) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypothyroidism, congenital, nongoitrous, 2. 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.
R31C (p.Arg31Cys) variant details
- p.Arg31Cys
- rs761612832
- ClinGen CA1840348
- NCI-TCGA Cosmic COSV5450
- cosmic curated COSV54507
- Pathogenic/Likely pathogenic
- not provided; Hypothyroidism, congenital, nongoitrous, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypothyroidism, congenital, nongoitrous, 2)
- EBI: Pathogenic (in CHNG2)
- UniProt: Pathogenic (in CHNG2)
- Population evidence available
- Structural context available