R2G (p.Arg2Gly) variant of TSHR (Thyrotropin receptor)
R2G (p.Arg2Gly) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R2G (p.Arg2Gly) variant details
- p.Arg2Gly
- gnomAD 14-80955684-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.17
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available