S6F (p.Ser6Phe) variant of FLNA (Filamin-A)
S6F (p.Ser6Phe) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Melnick-Needles syndrome; Frontometaphyseal dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- rs782780394
- ClinGen CA10561477
- ClinVar RCV001931371
- ClinVar RCV005232724
- Conflicting interpretations
- not provided; Melnick-Needles syndrome; Frontometaphyseal dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- CADD 23.30
- PolyPhen-2 0.15
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided; Melnick-Needles syndrome; Frontometaphyseal dyspla)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)