R30S (p.Arg30Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
R30S (p.Arg30Ser) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, 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 0.39 / 1. The record also includes population frequency data and structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- ExAC rs752819625
- TOPMed rs752819625
- gnomAD rs752819625
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.34
- CADD 21.60
- PolyPhen-2 0.25
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available