L13A (p.Leu13Ala) variant of TSHR (Thyrotropin receptor)
L13A (p.Leu13Ala) in TSHR (Thyrotropin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L13A (p.Leu13Ala) variant details
- p.Leu13Ala
- rs1318223887
- gnomAD 14-80955714-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 24.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available