L30F (p.Leu30Phe) variant of TPO (Thyroid peroxidase)
L30F (p.Leu30Phe) in TPO (Thyroid peroxidase) 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 0.64 / 1. The record also includes population frequency data.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10022
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 23.50
- PolyPhen-2 0.21
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)