K11M (p.Lys11Met) variant of ERCC3 (P19447)
K11M (p.Lys11Met) 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 0.45 / 1. The record also includes population frequency data and structural context.
K11M (p.Lys11Met) variant details
- p.Lys11Met
- rs199934696
- ClinGen CA348392426
- ClinVar RCV001051065
- 1000Genomes rs199934696
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- ESM-1b 0.55
- AlphaMissense 0.37
- MetaLR 0.29
- MetaSVM -0.60
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available