L38I (p.Leu38Ile) variant of GUCY2D (Retinal guanylyl cyclase 1)
L38I (p.Leu38Ile) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L38I (p.Leu38Ile) variant details
- p.Leu38Ile
- gnomAD 17-8003159-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 8.07
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available