P37A (p.Pro37Ala) variant of GUCY2D (Retinal guanylyl cyclase 1)
P37A (p.Pro37Ala) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
P37A (p.Pro37Ala) variant details
- p.Pro37Ala
- TOPMed rs1759349967
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.94
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available