R572P (p.Arg572Pro) variant of ABCA4 (P78363)
R572P (p.Arg572Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R572P (p.Arg572Pro) variant details
- p.Arg572Pro
- rs61748559
- ClinGen CA226919
- ClinVar RCV000085417
- ClinVar RCV001074238
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.06
- CADD 26.10
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- Structural context available
- Cited in: Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt… (PMID 18977788)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)