Q4E (p.Gln4Glu) variant of KRT1 (Keratin, type II cytoskeletal 1)
Q4E (p.Gln4Glu) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q4E (p.Gln4Glu) variant details
- p.Gln4Glu
- rs201712128
- ClinGen CA6586525
- ClinVar RCV002914780
- ExAC rs201712128
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.16
- CADD 16.30
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available