K19N (p.Lys19Asn) variant of ABCA4 (P78363)
K19N (p.Lys19Asn) 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 0.76 / 1. The record also includes structural context.
K19N (p.Lys19Asn) variant details
- p.Lys19Asn
- rs1662934961
- ClinGen CA341288544
- ClinVar RCV001889884
- Ensembl rs1662934961
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- AlphaMissense 0.62
- MetaLR 0.80
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.45
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available