P28L (p.Pro28Leu) variant of KRT18 (Keratin, type I cytoskeletal 18)
P28L (p.Pro28Leu) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs74379840
- NCI-TCGA Cosmic COSV6631
- cosmic curated COSV66316
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.21
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available