R4Q (p.Arg4Gln) variant of KRT10 (Keratin, type I cytoskeletal 10)
R4Q (p.Arg4Gln) in KRT10 (Keratin, type I cytoskeletal 10) 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.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- 1000Genomes rs142158041
- ESP rs142158041
- ExAC rs142158041
- TOPMed rs142158041
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.21
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.33
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)