I21M (p.Ile21Met) variant of IDH1 (O75874)
I21M (p.Ile21Met) in IDH1 (O75874) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I21M (p.Ile21Met) variant details
- p.Ile21Met
- Ensembl rs2124868201
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.41
- CADD 21.20
- PolyPhen-2 0.36
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available