P34L (p.Pro34Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
P34L (p.Pro34Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- gnomAD 17-8003148-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available
- Literature evidence available