K42K (p.Lys42Lys) variant of TSHR (Thyrotropin receptor)
K42K (p.Lys42Lys) in TSHR (Thyrotropin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K42K (p.Lys42Lys) variant details
- p.Lys42Lys
- gnomAD 14-80955806-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 13.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available