I189V (p.Ile189Val) variant of IDH1 (O75874)
I189V (p.Ile189Val) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Enchondromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I189V (p.Ile189Val) variant details
- p.Ile189Val
- rs62193615
- ClinGen CA160049
- cosmic curated COSV61624
- ClinVar RCV000121205
- Likely pathogenic
- Enchondromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.50
- CADD 25.70
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Likely pathogenic (Enchondromatosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available