P24Q (p.Pro24Gln) variant of GUCY2D (Retinal guanylyl cyclase 1)
P24Q (p.Pro24Gln) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P24Q (p.Pro24Gln) variant details
- p.Pro24Gln
- gnomAD 17-8003118-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.16
- ESM-1b 0.35
- AlphaMissense 0.11
- CADD 0.31
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available