K13E (p.Lys13Glu) variant of ABCA4 (P78363)
K13E (p.Lys13Glu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- rs1131691262
- ClinGen CA341288694
- ClinVar RCV000494201
- Ensembl rs1131691262
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 0.80
- MetaLR 0.51
- MetaSVM 0.17
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.62
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available