S2R (p.Ser2Arg) variant of PDE6B (P35913)
S2R (p.Ser2Arg) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- gnomAD 4-625632-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.15
- CADD 21.80
- PolyPhen-2 0.35
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available