L1729P (p.Leu1729Pro) variant of ABCA4 (P78363)
L1729P (p.Leu1729Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L1729P (p.Leu1729Pro) variant details
- p.Leu1729Pro
- rs61750567
- ClinGen CA227279
- ClinVar RCV000085703
- ClinVar RCV001074107
- Pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.79
- MetaLR 0.73
- MetaSVM 0.55
- CADD 27.40
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: 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 4.8e-05)
- Structural context available
- Cited in: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. (PMID 10206579)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)