S11N (p.Ser11Asn) variant of FLNA (Filamin-A)
S11N (p.Ser11Asn) in FLNA (Filamin-A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S11N (p.Ser11Asn) variant details
- p.Ser11Asn
- ExAC rs782397616
- gnomAD rs782397616
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.18
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available