S24R (p.Ser24Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
S24R (p.Ser24Arg) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S24R (p.Ser24Arg) variant details
- p.Ser24Arg
- 1000Genomes rs369925340
- ESP rs369925340
- ExAC rs369925340
- TOPMed rs369925340
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.27
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available