S69I (p.Ser69Ile) variant of KRT3 (Keratin, type II cytoskeletal 3)
S69I (p.Ser69Ile) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S69I (p.Ser69Ile) variant details
- p.Ser69Ile
- 1000Genomes rs199517745
- ExAC rs199517745
- TOPMed rs199517745
- gnomAD rs199517745
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.36
- CADD 22.20
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available