L13F (p.Leu13Phe) variant of TSHR (Thyrotropin receptor)
L13F (p.Leu13Phe) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- Ensembl rs2139669314
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.31
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available