T98A (p.Thr98Ala) variant of FLNA (Filamin-A)
T98A (p.Thr98Ala) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Melnick-Needles syndrome; Frontometaphyseal dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T98A (p.Thr98Ala) variant details
- p.Thr98Ala
- TOPMed rs1569551921
- Uncertain significance
- not provided; Melnick-Needles syndrome; Frontometaphyseal dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.43
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Melnick-Needles syndrome; Frontometaphyseal dyspla)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available