G20C (p.Gly20Cys) variant of FLNA (Filamin-A)
G20C (p.Gly20Cys) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- rs1557180247
- ClinGen CA415255761
- ClinVar RCV002926933
- TOPMed rs1557180247
- Benign
- Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needl
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.27
- CADD 16.40
- PolyPhen-2 0.39
- SIFT 0.06
- ClinVar: Benign (Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasi)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 9.2e-05)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)