D49N (p.Asp49Asn) variant of PDE6B (P35913)
D49N (p.Asp49Asn) in PDE6B (P35913) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- 1000Genomes rs79826315
- ESP rs79826315
- ExAC rs79826315
- TOPMed rs79826315
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.12
- MetaLR 0.19
- MetaSVM -0.81
- CADD 19.10
- PolyPhen-2 0.04
- SIFT 0.03
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available