H31H (p.His31His) variant of SPINK5 (Q9NQ38)
H31H (p.His31His) in SPINK5 (Q9NQ38) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H31H (p.His31His) variant details
- p.His31His
- gnomAD 5-148070334-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 3.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available