K1978E (p.Lys1978Glu) variant of ABCA4 (P78363)
K1978E (p.Lys1978Glu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Age related macular degeneration 2; Severe early-childhood-onset r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
K1978E (p.Lys1978Glu) variant details
- p.Lys1978Glu
- rs1064793014
- ClinGen CA16617200
- ClinVar RCV000486602
- ClinVar RCV000504970
- Pathogenic/Likely pathogenic
- not provided; Age related macular degeneration 2; Severe early-childhood-onset r
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.99
- MetaLR 0.98
- MetaSVM 1.02
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Age related macular degeneration 2; Severe early-c)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available