D55E (p.Asp55Glu) variant of SPINK5 (Q9NQ38)
D55E (p.Asp55Glu) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
D55E (p.Asp55Glu) variant details
- p.Asp55Glu
- TOPMed rs1419424149
- gnomAD rs1419424149
- Missense
- Variant Prioritization Score for Impact Estimate 0.0618
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.02
- CADD 0.90
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available