V675I (p.Val675Ile) variant of ABCA4 (P78363)
V675I (p.Val675Ile) 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; Retinal dystrophy; Cone-rod dystrophy 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V675I (p.Val675Ile) variant details
- p.Val675Ile
- rs575453437
- ClinGen CA958364
- ClinVar RCV000329208
- ClinVar RCV000478104
- Pathogenic/Likely pathogenic
- not provided; Retinal dystrophy; Cone-rod dystrophy 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.70
- MetaLR 0.84
- MetaSVM 0.83
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinal dystrophy; Cone-rod dystrophy 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)