G37E (p.Gly37Glu) variant of KRT4 (Keratin, type II cytoskeletal 4)
G37E (p.Gly37Glu) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G37E (p.Gly37Glu) variant details
- p.Gly37Glu
- gnomAD rs1469775979
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.43
- CADD 22.60
- PolyPhen-2 0.67
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available