I60I (p.Ile60Ile) variant of SPINK5 (Q9NQ38)
I60I (p.Ile60Ile) in SPINK5 (Q9NQ38) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I60I (p.Ile60Ile) variant details
- p.Ile60Ile
- rs766432990
- gnomAD 5-148070421-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 10.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available