T4T (p.Thr4Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
T4T (p.Thr4Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T4T (p.Thr4Thr) variant details
- p.Thr4Thr
- rs769641289
- gnomAD 12-52949185-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 9.99
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available