R6L (p.Arg6Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
R6L (p.Arg6Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- gnomAD 17-8003064-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.96
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available