S24R (p.Ser24Arg) variant of KRT2 (P35908)
S24R (p.Ser24Arg) in KRT2 (P35908) 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 0.26 / 1. The record also includes population frequency data and structural context.
S24R (p.Ser24Arg) variant details
- p.Ser24Arg
- 1000Genomes rs375338538
- ESP rs375338538
- ExAC rs375338538
- TOPMed rs375338538
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.41
- CADD 2.05
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available