M1T (p.Met1Thr) variant of CHD2 (O14647)
M1T (p.Met1Thr) in CHD2 (O14647) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Prostate cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs193920953
- ClinGen CA174163
- ClinVar RCV000149041
- Uncertain significance
- Prostate cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- MetaLR 0.60
- MetaSVM -0.02
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (Prostate cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)