A64A (p.Ala64Ala) variant of SPINK5 (Q9NQ38)
A64A (p.Ala64Ala) in SPINK5 (Q9NQ38) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A64A (p.Ala64Ala) variant details
- p.Ala64Ala
- gnomAD 5-148070433-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 6.62
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available