G145D (p.Gly145Asp) variant of F5 (Coagulation factor V)
G145D (p.Gly145Asp) in F5 (Coagulation factor V) 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 0.75 / 1. The record also includes population frequency data and structural context.
G145D (p.Gly145Asp) variant details
- p.Gly145Asp
- rs752741472
- ClinGen CA1234609
- ClinVar RCV001774315
- ExAC rs752741472
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.73
- CADD 23.90
- PolyPhen-2 0.81
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available