L136I (p.Leu136Ile) variant of F13B (Coagulation factor XIII B chain)
L136I (p.Leu136Ile) 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 0.42 / 1. The record also includes population frequency data and structural context.
L136I (p.Leu136Ile) variant details
- p.Leu136Ile
- rs757094432
- NCI-TCGA Cosmic COSV6637
- ExAC rs757094432
- Uncertain significance
- in FA13BD
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.34
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.09
- EBI: uncertain significance (in FA13BD)
- UniProt: Uncertain significance (in FA13BD)
- Population evidence available
- Structural context available