G27A (p.Gly27Ala) variant of PKD1 (Polycystin-1)
G27A (p.Gly27Ala) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- 1000Genomes rs1596636820
- gnomAD rs1596636820
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.07
- CADD 16.10
- PolyPhen-2 0.05
- SIFT 0.10
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available