A42S (p.Ala42Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
A42S (p.Ala42Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- TOPMed rs1250998048
- gnomAD rs1250998048
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.30
- CADD 22.20
- PolyPhen-2 0.54
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available