S143Y (p.Ser143Tyr) variant of KRT10 (Keratin, type I cytoskeletal 10)
S143Y (p.Ser143Tyr) in KRT10 (Keratin, type I cytoskeletal 10) 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 0.51 / 1. The record also includes population frequency data.
S143Y (p.Ser143Tyr) variant details
- p.Ser143Tyr
- rs563178579
- NCI-TCGA Cosmic COSV9951
- 1000Genomes rs563178579
- ExAC rs563178579
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.46
- AlphaMissense 0.54
- MetaLR 0.43
- MetaSVM -0.09
- CADD 23.40
- PolyPhen-2 0.97
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)