S11I (p.Ser11Ile) variant of FLNA (Filamin-A)
S11I (p.Ser11Ile) in FLNA (Filamin-A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S11I (p.Ser11Ile) variant details
- p.Ser11Ile
- ExAC rs782397616
- gnomAD rs782397616
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.49
- CADD 23.50
- PolyPhen-2 0.29
- SIFT 0.01
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available