D55D (p.Asp55Asp) variant of SPINK5 (Q9NQ38)
D55D (p.Asp55Asp) in SPINK5 (Q9NQ38) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D55D (p.Asp55Asp) variant details
- p.Asp55Asp
- gnomAD 5-148070406-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0834
- CADD 0.39
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available