G102E (p.Gly102Glu) variant of KRT12 (Keratin, type I cytoskeletal 12)
G102E (p.Gly102Glu) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G102E (p.Gly102Glu) variant details
- p.Gly102Glu
- TOPMed rs1907049106
- gnomAD rs1907049106
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.29
- CADD 10.30
- PolyPhen-2 0.31
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available