G16D (p.Gly16Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G16D (p.Gly16Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- TOPMed rs1285894552
- gnomAD rs1285894552
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.37
- CADD 18.80
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available