G67S (p.Gly67Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
G67S (p.Gly67Ser) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G67S (p.Gly67Ser) variant details
- p.Gly67Ser
- rs62066634
- ClinGen CA8563320
- ClinVar RCV000960183
- 1000Genomes rs62066634
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.17
- CADD 8.70
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available