C41R (p.Cys41Arg) variant of TSHR (Thyrotropin receptor)
C41R (p.Cys41Arg) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
C41R (p.Cys41Arg) variant details
- p.Cys41Arg
- gnomAD rs1410738370
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.69
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available