R9S (p.Arg9Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R9S (p.Arg9Ser) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- TOPMed rs1471243579
- gnomAD rs1471243579
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.05
- CADD 15.20
- PolyPhen-2 0.12
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available