A23G (p.Ala23Gly) variant of KRT6A (Keratin, type II cytoskeletal 6A)
A23G (p.Ala23Gly) in KRT6A (Keratin, type II cytoskeletal 6A) 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 0.50 / 1. The record also includes population frequency data and structural context.
A23G (p.Ala23Gly) variant details
- p.Ala23Gly
- rs1423965394
- gnomAD rs1423965394
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.47
- CADD 25.40
- PolyPhen-2 0.84
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available