K31T (p.Lys31Thr) variant of FLNB (Filamin-B)
K31T (p.Lys31Thr) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K31T (p.Lys31Thr) variant details
- p.Lys31Thr
- gnomAD 3-58008656-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.79
- CADD 25.60
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.316
- Literature evidence available