W31* (p.Trp31Ter) variant of ABCA4 (P78363)
W31* (p.Trp31Ter) in ABCA4 (P78363) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
W31* (p.Trp31Ter) variant details
- p.Trp31Ter
- rs1191816747
- ClinGen CA341286738
- ClinVar RCV001067891
- ClinVar RCV001074538
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)