K51Q (p.Lys51Gln) variant of FLNC (Filamin-C)
K51Q (p.Lys51Gln) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K51Q (p.Lys51Gln) variant details
- p.Lys51Gln
- gnomAD 7-128830788-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.61
- MetaLR 0.83
- MetaSVM 0.78
- CADD 26.80
- PolyPhen-2 0.75
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available