G45D (p.Gly45Asp) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G45D (p.Gly45Asp) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- rs1460706225
- ClinGen CA384928328
- ClinVar RCV001756866
- gnomAD rs1460706225
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.52
- CADD 19.00
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available