H5L (p.His5Leu) variant of FLNA (Filamin-A)
H5L (p.His5Leu) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FLNA-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
H5L (p.His5Leu) variant details
- p.His5Leu
- rs1557180291
- ClinGen CA415255901
- ClinVar RCV004534627
- Uncertain significance
- FLNA-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.05
- MetaLR 0.39
- MetaSVM -0.46
- PolyPhen-2 0.17
- SIFT 0.01
- MutPred 0.25
- ClinVar: Uncertain significance (FLNA-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available