A42T (p.Ala42Thr) variant of KRT14 (Keratin, type I cytoskeletal 14)
A42T (p.Ala42Thr) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- rs1250998048
- TOPMed rs1250998048
- gnomAD rs1250998048
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.39
- CADD 22.90
- PolyPhen-2 0.90
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available