A5V (p.Ala5Val) variant of GUCY2D (Retinal guanylyl cyclase 1)
A5V (p.Ala5Val) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD 17-8003061-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available