G96D (p.Gly96Asp) variant of KRT5 (Keratin, type II cytoskeletal 5)
G96D (p.Gly96Asp) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.60 / 1. The record also includes population frequency data and structural context.
G96D (p.Gly96Asp) variant details
- p.Gly96Asp
- rs768890570
- ExAC rs768890570
- TOPMed rs768890570
- gnomAD rs768890570
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.60
- CADD 23.30
- PolyPhen-2 0.81
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available