R30S (p.Arg30Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
R30S (p.Arg30Ser) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.33 / 1. The record also includes population frequency data and structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- TOPMed rs1190118432
- gnomAD rs1190118432
- NCI-TCGA Cosmic COSV5286
- NCI-TCGA Cosmic COSV9935
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.24
- AlphaMissense 0.41
- MetaLR 0.65
- MetaSVM 0.32
- CADD 8.21
- PolyPhen-2 0.99
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available