R17K (p.Arg17Lys) variant of TSHR (Thyrotropin receptor)
R17K (p.Arg17Lys) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R17K (p.Arg17Lys) variant details
- p.Arg17Lys
- TOPMed rs1334550660
- gnomAD rs1334550660
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.20
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available