G18V (p.Gly18Val) variant of FLNA (Filamin-A)
G18V (p.Gly18Val) in FLNA (Filamin-A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- TOPMed rs2043950991
- gnomAD rs2043950991
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.14
- AlphaMissense 0.08
- MetaLR 0.30
- MetaSVM -0.72
- CADD 18.20
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available