S29I (p.Ser29Ile) variant of KRT16 (Keratin, type I cytoskeletal 16)
S29I (p.Ser29Ile) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S29I (p.Ser29Ile) variant details
- p.Ser29Ile
- Ensembl rs1908247793
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.23
- CADD 22.70
- PolyPhen-2 0.42
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available