D14H (p.Asp14His) variant of TSHR (Thyrotropin receptor)
D14H (p.Asp14His) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
D14H (p.Asp14His) variant details
- p.Asp14His
- TOPMed rs1886628490
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.14
- CADD 7.80
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available