C44W (p.Cys44Trp) variant of PDE6B (P35913)
C44W (p.Cys44Trp) 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; not specified; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
C44W (p.Cys44Trp) variant details
- p.Cys44Trp
- rs199974771
- ClinGen CA200297
- ClinVar RCV000173098
- ClinVar RCV000337389
- Conflicting interpretations
- not provided; not specified; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.13
- MetaLR 0.13
- MetaSVM -0.96
- CADD 6.18
- PolyPhen-2 0.11
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; 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)