S34S (p.Ser34Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
S34S (p.Ser34Ser) in KRT18 (Keratin, type I cytoskeletal 18) 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.
S34S (p.Ser34Ser) variant details
- p.Ser34Ser
- rs78343594
- gnomAD 12-52949275-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 15.70
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available