H63Y (p.His63Tyr) variant of F12 (Coagulation factor XII)
H63Y (p.His63Tyr) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H63Y (p.His63Tyr) variant details
- p.His63Tyr
- ExAC rs776680390
- TOPMed rs776680390
- gnomAD rs776680390
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.11
- CADD 22.80
- PolyPhen-2 0.67
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available