R2K (p.Arg2Lys) variant of F13B (Coagulation factor XIII B chain)
R2K (p.Arg2Lys) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- Ensembl rs2125078285
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.09
- CADD 1.13
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available