T6I (p.Thr6Ile) variant of KRT6A (Keratin, type II cytoskeletal 6A)
T6I (p.Thr6Ile) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T6I (p.Thr6Ile) variant details
- p.Thr6Ile
- TOPMed rs899338319
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.09
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available