A45T (p.Ala45Thr) variant of FH (P07954)
A45T (p.Ala45Thr) in FH (P07954) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- NCI-TCGA TCGA novel
- gnomAD rs1260007300
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.55
- AlphaMissense 0.08
- MetaLR 0.91
- MetaSVM 0.94
- CADD 23.50
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available