I37V (p.Ile37Val) variant of FLNB (Filamin-B)
I37V (p.Ile37Val) in FLNB (Filamin-B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I37V (p.Ile37Val) variant details
- p.Ile37Val
- rs1249133663
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55879
- gnomAD rs1249133663
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- 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 -0.135