A42D (p.Ala42Asp) variant of KRT16 (Keratin, type I cytoskeletal 16)
A42D (p.Ala42Asp) in KRT16 (Keratin, type I cytoskeletal 16) 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 0.35 / 1. The record also includes population frequency data and structural context.
A42D (p.Ala42Asp) variant details
- p.Ala42Asp
- ESP rs201289840
- ExAC rs201289840
- TOPMed rs201289840
- gnomAD rs201289840
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.40
- CADD 20.40
- PolyPhen-2 0.08
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available