M154T (p.Met154Thr) variant of FLNA (Filamin-A)
M154T (p.Met154Thr) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Frontometaphyseal dysplasia; Melnick-Needles syndrome; Oto-palato-digital syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
M154T (p.Met154Thr) variant details
- p.Met154Thr
- rs782240483
- ClinGen CA10561407
- ClinVar RCV000499997
- ClinVar RCV001196653
- Conflicting interpretations
- Frontometaphyseal dysplasia; Melnick-Needles syndrome; Oto-palato-digital syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.74
- AlphaMissense 0.32
- MetaLR 0.74
- MetaSVM 0.38
- CADD 22.90
- PolyPhen-2 0.08
- ClinVar: Conflicting classifications of pathogenicity (Frontometaphyseal dysplasia; Melnick-Needles syndrome; Oto-palat)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)