M36T (p.Met36Thr) variant of F8 (Coagulation factor VIII)
M36T (p.Met36Thr) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar 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 0.36 / 1. The record also includes population frequency data and structural context.
M36T (p.Met36Thr) variant details
- p.Met36Thr
- gnomAD rs1557287580
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.51
- MetaLR 0.72
- MetaSVM 0.16
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 9.9e-05)
- Structural context available