T4I (p.Thr4Ile) variant of KRT18 (Keratin, type I cytoskeletal 18)
T4I (p.Thr4Ile) 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 0.33 / 1. The record also includes population frequency data and structural context.
T4I (p.Thr4Ile) variant details
- p.Thr4Ile
- rs76301931
- ClinGen CA6590708
- NCI-TCGA Cosmic COSV6631
- cosmic curated COSV66315
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.28
- CADD 15.30
- PolyPhen-2 0.07
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available