D73H (p.Asp73His) variant of FLNA (Filamin-A)
D73H (p.Asp73His) in FLNA (Filamin-A) 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 0.97 / 1. The record also includes structural context.
D73H (p.Asp73His) variant details
- p.Asp73His
- rs1557180192
- ClinGen CA415254938
- ClinVar RCV000521342
- Ensembl rs1557180192
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available