K29N (p.Lys29Asn) variant of IDH1 (O75874)
K29N (p.Lys29Asn) 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 0.49 / 1. The record also includes structural context.
K29N (p.Lys29Asn) variant details
- p.Lys29Asn
- rs2124868105
- Ensembl rs2124868105
- ClinGen CA350102915
- ClinVar RCV004334288
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.62
- MetaLR 0.50
- MetaSVM -0.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.25
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available