M13I (p.Met13Ile) variant of IDH1 (O75874)
M13I (p.Met13Ile) 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 0.36 / 1. The record also includes structural context.
M13I (p.Met13Ile) variant details
- p.Met13Ile
- rs946096480
- ClinGen CA350103168
- ClinVar RCV004247303
- Ensembl rs946096480
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.40
- MetaLR 0.30
- MetaSVM -0.68
- PolyPhen-2 0.05
- SIFT 0.14
- EVE 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available