E108G (p.Glu108Gly) variant of PKD1 (Polycystin-1)
E108G (p.Glu108Gly) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E108G (p.Glu108Gly) variant details
- p.Glu108Gly
- ExAC rs747538499
- gnomAD rs747538499
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.29
- MetaLR 0.26
- MetaSVM -0.55
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available