G100D (p.Gly100Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G100D (p.Gly100Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G100D (p.Gly100Asp) variant details
- p.Gly100Asp
- TOPMed rs1941563388
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.53
- CADD 17.50
- PolyPhen-2 0.36
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available