T43R (p.Thr43Arg) variant of FLNC (Filamin-C)
T43R (p.Thr43Arg) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
T43R (p.Thr43Arg) variant details
- p.Thr43Arg
- gnomAD rs1262087669
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.90
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available