K28M (p.Lys28Met) variant of MUTYH (Adenine DNA glycosylase)
K28M (p.Lys28Met) in MUTYH (Adenine DNA glycosylase) 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 0.61 / 1. The record also includes population frequency data and structural context.
K28M (p.Lys28Met) variant details
- p.Lys28Met
- rs1553131499
- ClinGen CA340137162
- ClinVar RCV000588717
- Ensembl rs1553131499
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- AlphaMissense 0.19
- MetaLR 0.78
- MetaSVM 0.15
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available