K50T (p.Lys50Thr) variant of F10 (Coagulation factor X)
K50T (p.Lys50Thr) in F10 (Coagulation factor X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K50T (p.Lys50Thr) variant details
- p.Lys50Thr
- gnomAD 13-113129530-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.64
- MetaLR 0.97
- MetaSVM 1.09
- CADD 20.60
- PolyPhen-2 0.69
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available