R18W (p.Arg18Trp) variant of ABCA4 (P78363)
R18W (p.Arg18Trp) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy; not provided; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R18W (p.Arg18Trp) variant details
- p.Arg18Trp
- rs121909205
- ClinGen CA227296
- ClinVar RCV000008356
- ClinVar RCV000085719
- Likely pathogenic
- Retinal dystrophy; not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.77
- MetaLR 0.77
- MetaSVM 0.72
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe early-childhood-onset retinal dystrophy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the 1KG:PUR population (allele frequency 0.011)
- Structural context available
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)
- Cited in: ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence… (PMID 23419329)