G48D (p.Gly48Asp) variant of KRT16 (Keratin, type I cytoskeletal 16)
G48D (p.Gly48Asp) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- gnomAD rs1188136093
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.35
- CADD 20.10
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available