D117N (p.Asp117Asn) variant of KRT12 (Keratin, type I cytoskeletal 12)
D117N (p.Asp117Asn) 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 0.34 / 1. The record also includes population frequency data and structural context.
D117N (p.Asp117Asn) variant details
- p.Asp117Asn
- rs757586930
- NCI-TCGA Cosmic COSV9928
- ExAC rs757586930
- gnomAD rs757586930
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.24
- CADD 20.50
- PolyPhen-2 0.37
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available