R30T (p.Arg30Thr) variant of KRT1 (Keratin, type II cytoskeletal 1)
R30T (p.Arg30Thr) in KRT1 (Keratin, type II cytoskeletal 1) 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.
R30T (p.Arg30Thr) variant details
- p.Arg30Thr
- ExAC rs765150249
- gnomAD rs765150249
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.26
- AlphaMissense 0.71
- MetaLR 0.67
- MetaSVM 0.46
- CADD 12.90
- PolyPhen-2 0.99
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available