A16V (p.Ala16Val) variant of FLNA (Filamin-A)
A16V (p.Ala16Val) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Melnick-Needles syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs2522772127
- ClinGen CA415255802
- ClinVar RCV002881168
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Melnick-Needles syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.12
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.18
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Melnick)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)