K100R (p.Lys100Arg) variant of FGA (Fibrinogen alpha chain)
K100R (p.Lys100Arg) in FGA (Fibrinogen alpha chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
K100R (p.Lys100Arg) variant details
- p.Lys100Arg
- gnomAD rs1185251751
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.57
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)