N98K (p.Asn98Lys) variant of ABCA4 (P78363)
N98K (p.Asn98Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
N98K (p.Asn98Lys) variant details
- p.Asn98Lys
- rs145133167
- ClinGen CA958885
- ClinVar RCV000254775
- ClinVar RCV001075836
- Conflicting interpretations
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.49
- MetaLR 0.84
- MetaSVM 0.65
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Retinal dystrophy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00092)
- Structural context available