R19Q (p.Arg19Gln) variant of KRT12 (Keratin, type I cytoskeletal 12)
R19Q (p.Arg19Gln) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- rs1308897791
- gnomAD rs1308897791
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.13
- CADD 7.20
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available