L33V (p.Leu33Val) variant of GUCY2D (Retinal guanylyl cyclase 1)
L33V (p.Leu33Val) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L33V (p.Leu33Val) variant details
- p.Leu33Val
- gnomAD 17-8003144-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 7.25
- PolyPhen-2 0.01
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available