C31C (p.Cys31Cys) variant of TSHR (Thyrotropin receptor)
C31C (p.Cys31Cys) in TSHR (Thyrotropin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
C31C (p.Cys31Cys) variant details
- p.Cys31Cys
- rs745922510
- gnomAD 14-80955773-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 12.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available