R28T (p.Arg28Thr) variant of F10 (Coagulation factor X)
R28T (p.Arg28Thr) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R28T (p.Arg28Thr) variant details
- p.Arg28Thr
- gnomAD rs2036405261
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.41
- CADD 4.80
- PolyPhen-2 0.03
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available