S49S (p.Ser49Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
S49S (p.Ser49Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S49S (p.Ser49Ser) variant details
- p.Ser49Ser
- rs1393274749
- gnomAD 12-52949320-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 9.90
- Population evidence available
- Structural context available
- Literature evidence available