M1K (p.Met1Lys) variant of PALB2 (Partner and localizer of BRCA2)
M1K (p.Met1Lys) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs756519825
- ClinGen CA395141289
- ClinVar RCV003164576
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- MetaLR 0.13
- MetaSVM -0.93
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available