P309R (p.Pro309Arg) variant of ABCA4 (P78363)
P309R (p.Pro309Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P309R (p.Pro309Arg) variant details
- p.Pro309Arg
- rs61748545
- ClinGen CA227468
- ClinVar RCV000085874
- ClinVar RCV000504769
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.57
- AlphaMissense 0.14
- MetaLR 0.63
- MetaSVM 0.21
- CADD 22.70
- PolyPhen-2 0.17
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the African/African-American population (allele frequency 0.0012)
- Structural context available
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)