I68S (p.Ile68Ser) variant of KRT3 (Keratin, type II cytoskeletal 3)
I68S (p.Ile68Ser) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I68S (p.Ile68Ser) variant details
- p.Ile68Ser
- 1000Genomes rs201564104
- TOPMed rs201564104
- gnomAD rs201564104
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.18
- CADD 16.20
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available