G23A (p.Gly23Ala) variant of KRT17 (Keratin, type I cytoskeletal 17)
G23A (p.Gly23Ala) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G23A (p.Gly23Ala) variant details
- p.Gly23Ala
- rs1309344989
- gnomAD rs1309344989
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.26
- CADD 16.90
- PolyPhen-2 0.05
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available