R3P (p.Arg3Pro) variant of F9 (Coagulation factor IX)
R3P (p.Arg3Pro) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- gnomAD X-139530772-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.10
- MetaLR 0.49
- MetaSVM -0.46
- CADD 9.29
- PolyPhen-2 0.11
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available