R38L (p.Arg38Leu) variant of TPO (Thyroid peroxidase)
R38L (p.Arg38Leu) 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 0.30 / 1. The record also includes population frequency data.
R38L (p.Arg38Leu) variant details
- p.Arg38Leu
- rs200427779
- 1000Genomes rs200427779
- ESP rs200427779
- ExAC rs200427779
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.11
- MetaLR 0.06
- MetaSVM -0.99
- PolyPhen-2 0.32
- SIFT 0.77
- EVE 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available