S56N (p.Ser56Asn) variant of PDE6B (P35913)
S56N (p.Ser56Asn) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S56N (p.Ser56Asn) variant details
- p.Ser56Asn
- gnomAD 4-625793-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.22
- CADD 23.40
- PolyPhen-2 0.64
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available