G75E (p.Gly75Glu) variant of KRT4 (Keratin, type II cytoskeletal 4)
G75E (p.Gly75Glu) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of White sponge nevus 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G75E (p.Gly75Glu) variant details
- p.Gly75Glu
- rs200665579
- ClinGen CA6588812
- ClinVar RCV000268826
- 1000Genomes rs200665579
- Benign
- White sponge nevus 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.70
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Benign (White sponge nevus 1)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available