A110V (p.Ala110Val) variant of FLNA (Filamin-A)
A110V (p.Ala110Val) in FLNA (Filamin-A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A110V (p.Ala110Val) variant details
- p.Ala110Val
- cosmic curated COSV61052
- ExAC rs782275257
- gnomAD rs782275257
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.85
- CADD 24.50
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available