T52T (p.Thr52Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
T52T (p.Thr52Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T52T (p.Thr52Thr) variant details
- p.Thr52Thr
- rs1942423083
- gnomAD 12-52949329-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 9.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available