T19I (p.Thr19Ile) variant of KRT5 (Keratin, type II cytoskeletal 5)
T19I (p.Thr19Ile) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
T19I (p.Thr19Ile) variant details
- p.Thr19Ile
- gnomAD rs1458034065
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available