A63G (p.Ala63Gly) variant of F11 (Coagulation factor XI)
A63G (p.Ala63Gly) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
A63G (p.Ala63Gly) variant details
- p.Ala63Gly
- rs281875244
- ClinGen CA358958077
- ClinVar RCV000998328
- ExAC rs281875244
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.11
- MetaLR 0.45
- MetaSVM -0.38
- PolyPhen-2 0.92
- SIFT 0.01
- EVE 0.13
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in FA11D)
- UniProt: Likely pathogenic (in FA11D)
- Structural context available