G23S (p.Gly23Ser) variant of KRT17 (Keratin, type I cytoskeletal 17)
G23S (p.Gly23Ser) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- rs750279151
- ClinGen CA8563866
- NCI-TCGA Cosmic COSV1002
- ClinVar RCV003079118
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.19
- CADD 16.50
- PolyPhen-2 0.02
- SIFT 0.09
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available