P2L (p.Pro2Leu) variant of PAX8 (Paired box protein Pax-8)
P2L (p.Pro2Leu) 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 Hypothyroidism, congenital, nongoitrous, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- rs886054794
- ClinGen CA10610660
- ClinVar RCV000395300
- TOPMed rs886054794
- Uncertain significance
- Hypothyroidism, congenital, nongoitrous, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.67
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Hypothyroidism, congenital, nongoitrous, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available