K3Q (p.Lys3Gln) variant of IDH1 (O75874)
K3Q (p.Lys3Gln) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
K3Q (p.Lys3Gln) variant details
- p.Lys3Gln
- rs2124868457
- ClinGen CA350103272
- ClinVar RCV004055368
- Ensembl rs2124868457
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.07
- MetaLR 0.30
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 0.25
- EVE 0.85
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available