L1631P (p.Leu1631Pro) variant of ABCA4 (P78363)
L1631P (p.Leu1631Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cone-rod dystrophy 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
L1631P (p.Leu1631Pro) variant details
- p.Leu1631Pro
- rs61750158
- ClinGen CA227250
- ClinVar RCV000085681
- ClinVar RCV005234982
- Likely pathogenic
- Cone-rod dystrophy 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.91
- MetaLR 0.83
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Likely pathogenic (Cone-rod dystrophy 3)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)
- Cited in: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. (PMID 10206579)