S30S (p.Ser30Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
S30S (p.Ser30Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs1333085811
- gnomAD 12-52949263-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.709
- CADD 17.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available