G1728V (p.Gly1728Val) variant of FLNA (Filamin-A)
G1728V (p.Gly1728Val) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Melnick-Needles syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G1728V (p.Gly1728Val) variant details
- p.Gly1728Val
- rs2148107380
- ClinGen CA415207279
- ClinVar RCV002226855
- Ensembl rs2148107380
- Likely pathogenic
- Melnick-Needles syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Melnick-Needles syndrome)
- EBI: Likely pathogenic (in FMD1)
- UniProt: Likely pathogenic (in FMD1)
- Structural context available
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)