P27L (p.Pro27Leu) variant of TSHR (Thyrotropin receptor)
P27L (p.Pro27Leu) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- 1000Genomes rs532920088
- ExAC rs532920088
- gnomAD rs532920088
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.23
- CADD 9.66
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available