S47S (p.Ser47Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
S47S (p.Ser47Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S47S (p.Ser47Ser) variant details
- p.Ser47Ser
- rs80004568
- gnomAD 12-52949314-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.30
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available