I8N (p.Ile8Asn) variant of KRT6B (Keratin, type II cytoskeletal 6B)
I8N (p.Ile8Asn) in KRT6B (Keratin, type II cytoskeletal 6B) 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 0.14 / 1. The record also includes population frequency data and structural context.
I8N (p.Ile8Asn) variant details
- p.Ile8Asn
- ExAC rs200240023
- TOPMed rs200240023
- gnomAD rs200240023
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.09
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available