S25I (p.Ser25Ile) variant of KRT12 (Keratin, type I cytoskeletal 12)
S25I (p.Ser25Ile) in KRT12 (Keratin, type I cytoskeletal 12) 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.
S25I (p.Ser25Ile) variant details
- p.Ser25Ile
- 1000Genomes rs537683583
- gnomAD rs537683583
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.23
- CADD 14.60
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available