G68S (p.Gly68Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
G68S (p.Gly68Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G68S (p.Gly68Ser) variant details
- p.Gly68Ser
- rs142137272
- ClinGen CA8562786
- ClinVar RCV000253938
- ClinVar RCV000894279
- Benign/Likely benign
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.28
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Benign/Likely benign (not provided; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available