D26E (p.Asp26Glu) variant of SPINK5 (Q9NQ38)
D26E (p.Asp26Glu) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D26E (p.Asp26Glu) variant details
- p.Asp26Glu
- TOPMed rs1478894570
- gnomAD rs1478894570
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.05
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available