Q24K (p.Gln24Lys) variant of KRT12 (Keratin, type I cytoskeletal 12)
Q24K (p.Gln24Lys) in KRT12 (Keratin, type I cytoskeletal 12) 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 0.36 / 1. The record also includes population frequency data and structural context.
Q24K (p.Gln24Lys) variant details
- p.Gln24Lys
- rs1469212401
- gnomAD rs1469212401
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.25
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available