p.Pro16 Leu19del variant of TSHR (Thyrotropin receptor)
p.Pro16 Leu19del in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro16 Leu19del variant details
- gnomAD 14-80955719-CGACC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 16.80
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available