G111A (p.Gly111Ala) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G111A (p.Gly111Ala) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G111A (p.Gly111Ala) variant details
- p.Gly111Ala
- 1000Genomes rs681063
- ExAC rs681063
- TOPMed rs681063
- gnomAD rs681063
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.60
- CADD 18.40
- PolyPhen-2 0.38
- SIFT 0.06
- EBI: Variant of uncertain significance (in dbSNP:rs681063)
- UniProt: Uncertain significance (in dbSNP:rs681063)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available