I57del (p.Ile57del) variant of SPINK5 (Q9NQ38)
I57del (p.Ile57del) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I57del (p.Ile57del) variant details
- rs1477763174
- gnomAD 5-148070408-GAAT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 6.86
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available