D16H (p.Asp16His) variant of IDH1 (O75874)
D16H (p.Asp16His) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
D16H (p.Asp16His) variant details
- p.Asp16His
- rs192514135
- ClinGen CA2079111
- ClinVar RCV004052004
- 1000Genomes rs192514135
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.88
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available