A12A (p.Ala12Ala) variant of INS (Insulin)
A12A (p.Ala12Ala) in INS (Insulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- rs3842744
- gnomAD 11-2160936-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 4.69
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available
- Literature evidence available