D125N (p.Asp125Asn) variant of FLNA (Filamin-A)
D125N (p.Asp125Asn) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Periventricular nodular heterotopia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
D125N (p.Asp125Asn) variant details
- p.Asp125Asn
- rs2148121838
- ClinGen CA415254085
- cosmic curated COSV61054
- ClinVar RCV001391265
- Likely pathogenic
- Periventricular nodular heterotopia
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- AlphaMissense 0.99
- MetaLR 0.76
- MetaSVM 0.57
- PolyPhen-2 0.84
- SIFT 0.00
- MutPred 0.60
- ClinVar: Likely pathogenic (Periventricular nodular heterotopia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available