A29S (p.Ala29Ser) variant of FLNC (Filamin-C)
A29S (p.Ala29Ser) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- gnomAD 7-128830722-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.29
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available