F134I (p.Phe134Ile) variant of KRT1 (Keratin, type II cytoskeletal 1)
F134I (p.Phe134Ile) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
F134I (p.Phe134Ile) variant details
- p.Phe134Ile
- TOPMed rs952892652
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.27
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available