P34S (p.Pro34Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
P34S (p.Pro34Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- gnomAD 17-8003147-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 5.96
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available