V30M (p.Val30Met) variant of F13A1 (Coagulation factor XIII A chain)
V30M (p.Val30Met) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.18 / 1. The record also includes population frequency data and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- rs1447842650
- ClinGen CA362740574
- ClinVar RCV000816897
- TOPMed rs1447842650
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.23
- MetaLR 0.16
- MetaSVM -0.91
- CADD 0.35
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available