R48Q (p.Arg48Gln) variant of PDE6B (P35913)
R48Q (p.Arg48Gln) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R48Q (p.Arg48Gln) variant details
- p.Arg48Gln
- rs113842820
- ClinGen CA228883
- cosmic curated COSV55327
- ClinVar RCV000086942
- Benign/Likely benign
- not specified; not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -1.12
- CADD 7.80
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Benign/Likely benign (not specified; not provided; Retinitis pigmentosa)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)