S63L (p.Ser63Leu) variant of ABCA4 (P78363)
S63L (p.Ser63Leu) in ABCA4 (P78363) 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 0.89 / 1. The record also includes population frequency data and structural context.
S63L (p.Ser63Leu) variant details
- p.Ser63Leu
- rs2101162668
- ClinGen CA341285586
- ClinVar RCV002034372
- Ensembl rs2101162668
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.92
- MetaLR 0.98
- MetaSVM 1.08
- CADD 29.90
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in CORD3)
- UniProt: Uncertain significance (in CORD3)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available