S23I (p.Ser23Ile) variant of KRT18 (Keratin, type I cytoskeletal 18)
S23I (p.Ser23Ile) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S23I (p.Ser23Ile) variant details
- p.Ser23Ile
- Ensembl rs1942416913
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.46
- CADD 21.00
- PolyPhen-2 0.06
- SIFT 0.05
- Population evidence available
- Structural context available