K18E (p.Lys18Glu) variant of PALB2 (Partner and localizer of BRCA2)
K18E (p.Lys18Glu) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
K18E (p.Lys18Glu) variant details
- p.Lys18Glu
- rs2142461206
- ClinGen CA395140003
- ClinVar RCV003322434
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.53
- MetaLR 0.16
- MetaSVM -0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available