N48D (p.Asn48Asp) variant of IDH1 (O75874)
N48D (p.Asn48Asp) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N48D (p.Asn48Asp) variant details
- p.Asn48Asp
- TOPMed rs1172899722
- gnomAD rs1172899722
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.24
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available