A13E (p.Ala13Glu) variant of FLNA (Filamin-A)
A13E (p.Ala13Glu) in FLNA (Filamin-A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- gnomAD rs1557180265
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the East Asian population (allele frequency 6.7e-05)
- Structural context available