H93R (p.His93Arg) variant of FLNA (Filamin-A)
H93R (p.His93Arg) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
H93R (p.His93Arg) variant details
- p.His93Arg
- rs2148121892
- ClinGen CA415254604
- ClinVar RCV001751889
- Ensembl rs2148121892
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- AlphaMissense 0.47
- MetaLR 0.75
- MetaSVM 0.26
- PolyPhen-2 0.01
- SIFT 0.01
- MutPred 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available