L9P (p.Leu9Pro) variant of TSHR (Thyrotropin receptor)
L9P (p.Leu9Pro) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- TOPMed rs1235510229
- gnomAD rs1235510229
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.58
- CADD 26.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available