L45F (p.Leu45Phe) variant of PRPH2 (Peripherin-2)
L45F (p.Leu45Phe) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of PRPH2-related disorder; Cone-rod dystrophy; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- rs61755770
- ClinGen CA226207
- ClinVar RCV000084954
- ClinVar RCV000987700
- Benign/Likely benign
- PRPH2-related disorder; Cone-rod dystrophy; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.52
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Benign/Likely benign (PRPH2-related disorder; Cone-rod dystrophy; Retinitis pigmentosa)
- EBI: Pathogenic (in RP7 and VMD3)
- UniProt: Pathogenic (in RP7 and VMD3)
- Most common in the 1KG:ACB population (allele frequency 0.033)
- Structural context available
- Cited in: PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation. (PMID 20213611)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)