R63H (p.Arg63His) variant of FLNA (Filamin-A)
R63H (p.Arg63His) in FLNA (Filamin-A) 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 0.59 / 1. The record also includes population frequency data and structural context.
R63H (p.Arg63His) variant details
- p.Arg63His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.51
- CADD 29.90
- PolyPhen-2 0.80
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available