D49Y (p.Asp49Tyr) variant of PDE6B (P35913)
D49Y (p.Asp49Tyr) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Retinal dystrophy; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D49Y (p.Asp49Tyr) variant details
- p.Asp49Tyr
- rs79826315
- ClinGen CA292718
- ClinVar RCV000127395
- ClinVar RCV000271035
- Benign/Likely benign
- Retinal dystrophy; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -0.77
- CADD 22.60
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Benign/Likely benign (Retinal dystrophy; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)