L12H (p.Leu12His) variant of FLNC (Filamin-C)
L12H (p.Leu12His) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L12H (p.Leu12His) variant details
- p.Leu12His
- gnomAD 7-128830672-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.24
- CADD 22.10
- PolyPhen-2 0.14
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available