A19P (p.Ala19Pro) variant of PDE6B (P35913)
A19P (p.Ala19Pro) in PDE6B (P35913) is a missense change. 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.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- gnomAD 4-625681-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.25
- CADD 15.80
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available