L1250P (p.Leu1250Pro) variant of ABCA4 (P78363)
L1250P (p.Leu1250Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
L1250P (p.Leu1250Pro) variant details
- p.Leu1250Pro
- rs61750128
- ClinGen CA227132
- ClinVar RCV000085590
- ClinVar RCV005417460
- Likely pathogenic
- Retinitis pigmentosa; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 1.00
- MetaLR 0.95
- MetaSVM 1.10
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Retinitis pigmentosa; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- Structural context available
- Cited in: An analysis of allelic variation in the ABCA4 gene. (PMID 11328725)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)