H40D (p.His40Asp) variant of IDH1 (O75874)
H40D (p.His40Asp) 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 0.35 / 1. The record also includes structural context.
H40D (p.His40Asp) variant details
- p.His40Asp
- rs2124867977
- ClinGen CA350102827
- ClinVar RCV004523778
- Ensembl rs2124867977
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.26
- MetaLR 0.20
- MetaSVM -0.73
- PolyPhen-2 0.67
- SIFT 0.08
- EVE 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available