T29A (p.Thr29Ala) variant of F9 (Coagulation factor IX)
T29A (p.Thr29Ala) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T29A (p.Thr29Ala) variant details
- p.Thr29Ala
- gnomAD X-139530849-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.25
- MetaLR 0.36
- MetaSVM -0.75
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.91
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available