H5Y (p.His5Tyr) variant of FLNA (Filamin-A)
H5Y (p.His5Tyr) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Frontometaphyseal dysplasia; Oto-palato-digital syndrome, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
H5Y (p.His5Tyr) variant details
- p.His5Tyr
- rs781866647
- ClinGen CA10561478
- ClinVar RCV000830735
- ClinVar RCV001858427
- Benign/Likely benign
- not provided; Frontometaphyseal dysplasia; Oto-palato-digital syndrome, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.42
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.13
- ClinVar: Benign/Likely benign (not provided; Frontometaphyseal dysplasia; Oto-palato-digital sy)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:XIBO population (allele frequency 0.11)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)