S49C (p.Ser49Cys) variant of TSHR (Thyrotropin receptor)
S49C (p.Ser49Cys) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S49C (p.Ser49Cys) variant details
- p.Ser49Cys
- cosmic curated COSV53315
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.21
- CADD 23.50
- PolyPhen-2 0.38
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available