V42I (p.Val42Ile) variant of TPO (Thyroid peroxidase)
V42I (p.Val42Ile) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- rs147325430
- NCI-TCGA Cosmic COSV6109
- cosmic curated COSV61098
- 1000Genomes rs147325430
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 6.87
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00082)