L41V (p.Leu41Val) variant of GUCY2D (Retinal guanylyl cyclase 1)
L41V (p.Leu41Val) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L41V (p.Leu41Val) variant details
- p.Leu41Val
- gnomAD 17-8003168-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.15
- ESM-1b 0.81
- AlphaMissense 0.09
- CADD 7.17
- PolyPhen-2 0.02
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available