L41P (p.Leu41Pro) variant of GUCY2D (Retinal guanylyl cyclase 1)
L41P (p.Leu41Pro) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- gnomAD rs1363193636
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.34
- ESM-1b 0.13
- AlphaMissense 0.09
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available