A8V (p.Ala8Val) variant of GUCY2D (Retinal guanylyl cyclase 1)
A8V (p.Ala8Val) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs1485169567
- TOPMed rs1485169567
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 11.80
- PolyPhen-2 0.05
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available