M18V (p.Met18Val) variant of IDH1 (O75874)
M18V (p.Met18Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
M18V (p.Met18Val) variant details
- p.Met18Val
- rs1688123040
- ClinGen CA350103103
- ClinVar RCV004052364
- TOPMed rs1688123040
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.60
- CADD 25.60
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available