K59R (p.Lys59Arg) variant of ABCA4 (P78363)
K59R (p.Lys59Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of not provided. The record also includes variant effect predictions and structural context.
K59R (p.Lys59Arg) variant details
- p.Lys59Arg
- Ensembl rs1662606120
- Likely pathogenic
- not provided
- Missense
- MetaLR 0.95
- MetaSVM 1.10
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- UniProt: Likely pathogenic
- Structural context available