L136F (p.Leu136Phe) variant of F13B (Coagulation factor XIII B chain)
L136F (p.Leu136Phe) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in FA13BD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L136F (p.Leu136Phe) variant details
- p.Leu136Phe
- rs757094432
- NCI-TCGA Cosmic COSV6637
- UniProt VAR 074565
- Uncertain significance
- in FA13BD
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.44
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.13
- EBI: Variant of uncertain significance (in FA13BD)
- UniProt: Uncertain significance (in FA13BD)
- Population evidence available
- Structural context available
- Cited in: Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a… (PMID 20331752)
- Cited in: Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants. (PMID 26247044)