G98S (p.Gly98Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
G98S (p.Gly98Ser) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from ClinVar 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 0.16 / 1. The record also includes population frequency data and structural context.
G98S (p.Gly98Ser) variant details
- p.Gly98Ser
- rs145116138
- 1000Genomes rs145116138
- ESP rs145116138
- ExAC rs145116138
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.06
- CADD 16.10
- PolyPhen-2 0.02
- SIFT 0.25
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available