G112D (p.Gly112Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G112D (p.Gly112Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G112D (p.Gly112Asp) variant details
- p.Gly112Asp
- gnomAD rs1248714213
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.51
- CADD 14.90
- PolyPhen-2 0.98
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available