M13T (p.Met13Thr) variant of IDH1 (O75874)
M13T (p.Met13Thr) 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 0.75 / 1. The record also includes population frequency data and structural context.
M13T (p.Met13Thr) variant details
- p.Met13Thr
- rs1045831045
- ClinGen CA64590225
- ClinVar RCV004050363
- Ensembl rs1045831045
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.86
- CADD 23.90
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available