G18S (p.Gly18Ser) variant of FLNA (Filamin-A)
G18S (p.Gly18Ser) 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.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- TOPMed rs1291341232
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.20
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available