S2S (p.Ser2Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
S2S (p.Ser2Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- rs141170056
- gnomAD 12-52949179-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 11.90
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available