M49V (p.Met49Val) variant of F13B (Coagulation factor XIII B chain)
M49V (p.Met49Val) in F13B (Coagulation factor XIII B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
M49V (p.Met49Val) variant details
- p.Met49Val
- rs6002
- UniProt VAR 013930
- 1000Genomes rs6002
- ExAC rs6002
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.23
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:MIAO population (allele frequency 0.05)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)