L33P (p.Leu33Pro) variant of GUCY2D (Retinal guanylyl cyclase 1)
L33P (p.Leu33Pro) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L33P (p.Leu33Pro) variant details
- p.Leu33Pro
- gnomAD 17-8003145-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 6.85
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available