G109A (p.Gly109Ala) variant of KRT14 (Keratin, type I cytoskeletal 14)
G109A (p.Gly109Ala) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G109A (p.Gly109Ala) variant details
- p.Gly109Ala
- ExAC rs772213277
- TOPMed rs772213277
- gnomAD rs772213277
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.39
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available