R2S (p.Arg2Ser) variant of TSHR (Thyrotropin receptor)
R2S (p.Arg2Ser) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R2S (p.Arg2Ser) variant details
- p.Arg2Ser
- ExAC rs750257586
- gnomAD rs750257586
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.32
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available