A1357V (p.Ala1357Val) variant of ABCA4 (P78363)
A1357V (p.Ala1357Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic/established risk al in the context of Retinitis pigmentosa; not provided; Severe early-childhood-onset retinal dystrop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A1357V (p.Ala1357Val) variant details
- p.Ala1357Val
- rs552517556
- ClinGen CA341286982
- ClinVar RCV001244465
- ClinVar RCV004782683
- Pathogenic/Likely pathogenic/Established risk al
- Retinitis pigmentosa; not provided; Severe early-childhood-onset retinal dystrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.88
- MetaLR 0.88
- MetaSVM 0.93
- CADD 27.50
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic/Established risk al (Retinitis pigmentosa; not provided; Severe early-childhood-onset)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the South Asian population (allele frequency 1.2e-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)