G111D (p.Gly111Asp) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G111D (p.Gly111Asp) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Pachyonychia congenita 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G111D (p.Gly111Asp) variant details
- p.Gly111Asp
- rs61745883
- ClinGen CA6580888
- ClinVar RCV000602544
- ClinVar RCV003983144
- Benign
- Pachyonychia congenita 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.62
- CADD 22.70
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Benign (Pachyonychia congenita 2; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Pachyonychia Congenita. (PMID 20301457)