E75K (p.Glu75Lys) variant of DNMT1 (P26358)
E75K (p.Glu75Lys) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E75K (p.Glu75Lys) variant details
- p.Glu75Lys
- rs1206145138
- ClinGen CA403946972
- cosmic curated COSV10647
- ClinVar RCV001797484
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.35
- MetaLR 0.21
- MetaSVM -0.69
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.62
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available