H86P (p.His86Pro) variant of HTT (Huntingtin)
H86P (p.His86Pro) in HTT (Huntingtin) is a missense change. Clinical records from ClinVar, EBI, 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 0.22 / 1. The record also includes population frequency data and structural context.
H86P (p.His86Pro) variant details
- p.His86Pro
- rs868348450
- ClinGen CA91430578
- ClinVar RCV003434945
- 1000Genomes rs868348450
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- AlphaMissense 0.04
- MetaLR 0.01
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available