M1K (p.Met1Lys) variant of POLE (Q07864)
M1K (p.Met1Lys) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs879254126
- ClinGen CA387373585
- ClinVar RCV000578827
- ClinVar RCV001535559
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- MetaLR 0.01
- MetaSVM -0.99
- PolyPhen-2 0.04
- SIFT 0.00
- MutPred 0.91
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Colorectal Cancer (PDQ®): Health Professional Version. (PMID 26389505)