P51L (p.Pro51Leu) variant of TSHR (Thyrotropin receptor)
P51L (p.Pro51Leu) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P51L (p.Pro51Leu) variant details
- p.Pro51Leu
- cosmic curated COSV53318
- ExAC rs758059665
- TOPMed rs758059665
- gnomAD rs758059665
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.46
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available