L53V (p.Leu53Val) variant of F10 (Coagulation factor X)
L53V (p.Leu53Val) in F10 (Coagulation factor X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L53V (p.Leu53Val) variant details
- p.Leu53Val
- gnomAD 13-113129538-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.68
- MetaLR 0.99
- MetaSVM 0.97
- CADD 21.00
- PolyPhen-2 0.84
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available