P30L (p.Pro30Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
P30L (p.Pro30Leu) 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.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- gnomAD 17-8003136-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available