T43K (p.Thr43Lys) variant of FLNC (Filamin-C)
T43K (p.Thr43Lys) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
T43K (p.Thr43Lys) variant details
- p.Thr43Lys
- gnomAD 7-128830765-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.88
- MetaLR 0.92
- MetaSVM 1.01
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available