Y53F (p.Tyr53Phe) variant of KRT9 (Keratin, type I cytoskeletal 9)
Y53F (p.Tyr53Phe) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Y53F (p.Tyr53Phe) variant details
- p.Tyr53Phe
- TOPMed rs926641605
- gnomAD rs926641605
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.29
- CADD 1.47
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available