S49K (p.Ser49Lys) variant of TSHR (Thyrotropin receptor)
S49K (p.Ser49Lys) in TSHR (Thyrotropin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S49K (p.Ser49Lys) variant details
- p.Ser49Lys
- gnomAD 14-80955824-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available