D38N (p.Asp38Asn) variant of IDH1 (O75874)
D38N (p.Asp38Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D38N (p.Asp38Asn) variant details
- p.Asp38Asn
- rs374907791
- ClinGen CA2079101
- ClinVar RCV004048417
- ClinVar RCV005051959
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.32
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available