Q30R (p.Gln30Arg) variant of F10 (Coagulation factor X)
Q30R (p.Gln30Arg) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Factor X deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
Q30R (p.Gln30Arg) variant details
- p.Gln30Arg
- rs2142252077
- ClinGen CA388787436
- ClinVar RCV001420413
- Ensembl rs2142252077
- Uncertain significance
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.07
- MetaLR 0.54
- MetaSVM -0.21
- PolyPhen-2 0.00
- SIFT 0.63
- MutPred 0.29
- ClinVar: Uncertain significance (Factor X deficiency)
- EBI: Variant of uncertain significance (in dbSNP:rs5961)
- UniProt: Uncertain significance (in dbSNP:rs5961)
- Structural context available