R82T (p.Arg82Thr) variant of KRT1 (Keratin, type II cytoskeletal 1)
R82T (p.Arg82Thr) 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.
R82T (p.Arg82Thr) variant details
- p.Arg82Thr
- TOPMed rs1464830293
- gnomAD rs1464830293
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.22
- AlphaMissense 0.10
- MetaLR 0.45
- MetaSVM -0.54
- CADD 13.50
- PolyPhen-2 0.98
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available