A5V (p.Ala5Val) variant of TPO (Thyroid peroxidase)
A5V (p.Ala5Val) 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 0.31 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs764885513
- NCI-TCGA Cosmic COSV6111
- cosmic curated COSV61111
- ExAC rs764885513
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.10
- MetaLR 0.11
- MetaSVM -0.98
- PolyPhen-2 0.05
- SIFT 0.12
- MutPred 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available