A4A (p.Ala4Ala) variant of SPINK5 (Q9NQ38)
A4A (p.Ala4Ala) in SPINK5 (Q9NQ38) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- gnomAD 5-148064056-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.091
- CADD 1.48
- Population evidence available
- Structural context available
- Literature evidence available