P24L (p.Pro24Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
P24L (p.Pro24Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- gnomAD rs1438692183
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 0.85
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available