G99R (p.Gly99Arg) variant of KRT10 (Keratin, type I cytoskeletal 10)
G99R (p.Gly99Arg) 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.
G99R (p.Gly99Arg) variant details
- p.Gly99Arg
- rs1441986571
- NCI-TCGA Cosmic COSV5409
- TOPMed rs1441986571
- gnomAD rs1441986571
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.58
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.01
- CADD 22.10
- PolyPhen-2 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)