S60R (p.Ser60Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S60R (p.Ser60Arg) in KRT6B (Keratin, type II cytoskeletal 6B) 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 0.47 / 1. The record also includes population frequency data and structural context.
S60R (p.Ser60Arg) variant details
- p.Ser60Arg
- TOPMed rs1404459768
- gnomAD rs1404459768
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.57
- CADD 22.30
- PolyPhen-2 0.76
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available