D43N (p.Asp43Asn) variant of IDH1 (O75874)
D43N (p.Asp43Asn) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- cosmic curated COSV61615
- Ensembl rs2124864084
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.78
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available