R40S (p.Arg40Ser) variant of F10 (Coagulation factor X)
R40S (p.Arg40Ser) in F10 (Coagulation factor X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R40S (p.Arg40Ser) variant details
- p.Arg40Ser
- gnomAD 13-113129501-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.66
- MetaLR 0.99
- MetaSVM 1.08
- CADD 20.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available