C18G (p.Cys18Gly) variant of KRT14 (Keratin, type I cytoskeletal 14)
C18G (p.Cys18Gly) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
C18G (p.Cys18Gly) variant details
- p.Cys18Gly
- rs1159749209
- ClinGen CA399483830
- ClinVar RCV003669819
- gnomAD rs1159749209
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.15
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available