A35A (p.Ala35Ala) variant of SPINK5 (Q9NQ38)
A35A (p.Ala35Ala) in SPINK5 (Q9NQ38) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A35A (p.Ala35Ala) variant details
- p.Ala35Ala
- rs200250655
- gnomAD 5-148070346-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.83
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available