H42N (p.His42Asn) variant of THRB (Thyroid hormone receptor beta)
H42N (p.His42Asn) in THRB (Thyroid hormone receptor beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
H42N (p.His42Asn) variant details
- p.His42Asn
- gnomAD rs1235937444
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available