R55C (p.Arg55Cys) variant of KRT16 (Keratin, type I cytoskeletal 16)
R55C (p.Arg55Cys) in KRT16 (Keratin, type I cytoskeletal 16) 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 0.44 / 1. The record also includes population frequency data and structural context.
R55C (p.Arg55Cys) variant details
- p.Arg55Cys
- rs532092611
- 1000Genomes rs532092611
- ExAC rs532092611
- TOPMed rs532092611
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.51
- CADD 23.20
- PolyPhen-2 0.96
- SIFT 0.25
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available