G67S (p.Gly67Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
G67S (p.Gly67Ser) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
G67S (p.Gly67Ser) variant details
- p.Gly67Ser
- rs141310122
- ClinGen CA8560840
- ClinVar RCV000883452
- 1000Genomes rs141310122
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0999
- REVEL 0.05
- CADD 2.68
- PolyPhen-2 0.01
- SIFT 0.58
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available