A32A (p.Ala32Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
A32A (p.Ala32Ala) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A32A (p.Ala32Ala) variant details
- p.Ala32Ala
- rs778594717
- gnomAD 12-52949269-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.36
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available