E73K (p.Glu73Lys) variant of SPINK5 (Q9NQ38)
E73K (p.Glu73Lys) in SPINK5 (Q9NQ38) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E73K (p.Glu73Lys) variant details
- p.Glu73Lys
- gnomAD 5-148072149-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 24.30
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available