T9I (p.Thr9Ile) variant of KRT16 (Keratin, type I cytoskeletal 16)
T9I (p.Thr9Ile) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- TOPMed rs1407246468
- gnomAD rs1407246468
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.28
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available