D55Y (p.Asp55Tyr) variant of FH (P07954)
D55Y (p.Asp55Tyr) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
D55Y (p.Asp55Tyr) variant details
- p.Asp55Tyr
- rs1660245455
- ClinGen CA345441972
- ClinVar RCV003677468
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available