A967V (p.Ala967Val) variant of ABCA4 (P78363)
A967V (p.Ala967Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A967V (p.Ala967Val) variant details
- p.Ala967Val
- rs1291080436
- ClinGen CA341275316
- ClinVar RCV001230252
- ClinVar RCV004587084
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.23
- ClinVar: Likely pathogenic (ABCA4-related retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)