T52I (p.Thr52Ile) variant of KRT18 (Keratin, type I cytoskeletal 18)
T52I (p.Thr52Ile) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- gnomAD rs1333552689
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.38
- CADD 21.00
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available