G102D (p.Gly102Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G102D (p.Gly102Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G102D (p.Gly102Asp) variant details
- p.Gly102Asp
- ExAC rs756115415
- gnomAD rs756115415
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.47
- CADD 19.90
- PolyPhen-2 0.74
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available