L39R (p.Leu39Arg) variant of GUCY2D (Retinal guanylyl cyclase 1)
L39R (p.Leu39Arg) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L39R (p.Leu39Arg) variant details
- p.Leu39Arg
- TOPMed rs1316383527
- gnomAD rs1316383527
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available