A81T (p.Ala81Thr) variant of F8 (Coagulation factor VIII)
A81T (p.Ala81Thr) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A81T (p.Ala81Thr) variant details
- p.Ala81Thr
- rs1210085395
- ClinGen CA414920196
- ClinVar RCV003230875
- TOPMed rs1210085395
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.67
- MetaLR 0.84
- MetaSVM 0.37
- CADD 18.10
- PolyPhen-2 0.18
- SIFT 0.28
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available