P3L (p.Pro3Leu) variant of THRB (Thyroid hormone receptor beta)
P3L (p.Pro3Leu) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs760749837
- NCI-TCGA Cosmic COSV6284
- cosmic curated COSV62841
- ExAC rs760749837
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available