L6F (p.Leu6Phe) variant of TSHR (Thyrotropin receptor)
L6F (p.Leu6Phe) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- NCI-TCGA Cosmic COSV5332
- cosmic curated COSV53320
- NCI-TCGA Cosmic COSV5333
- cosmic curated COSV53333
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.34
- CADD 21.40
- PolyPhen-2 0.65
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available