T11I (p.Thr11Ile) variant of KRT18 (Keratin, type I cytoskeletal 18)
T11I (p.Thr11Ile) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T11I (p.Thr11Ile) variant details
- p.Thr11Ile
- gnomAD rs1381635123
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.51
- CADD 23.10
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available