D45N (p.Asp45Asn) variant of PDE6B (P35913)
D45N (p.Asp45Asn) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Retinal dystrophy; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- rs138423108
- ClinGen CA2793852
- cosmic curated COSV10505
- ClinVar RCV000298325
- Conflicting interpretations
- not provided; Retinal dystrophy; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.0745
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.02
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinal dystrophy; Retinitis pigmentosa)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)