K11E (p.Lys11Glu) variant of ERCC3 (P19447)
K11E (p.Lys11Glu) in ERCC3 (P19447) 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 0.26 / 1. The record also includes structural context.
K11E (p.Lys11Glu) variant details
- p.Lys11Glu
- rs2104783457
- ClinGen CA348392429
- ClinVar RCV001767228
- Ensembl rs2104783457
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.17
- MetaSVM -0.89
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available