T23M (p.Thr23Met) variant of FLNA (Filamin-A)
T23M (p.Thr23Met) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotopia, periventricu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T23M (p.Thr23Met) variant details
- p.Thr23Met
- TOPMed rs1034838081
- gnomAD rs1034838081
- Uncertain significance
- Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotopia, periventricu
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.15
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotop)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available