S72N (p.Ser72Asn) variant of FLNA (Filamin-A)
S72N (p.Ser72Asn) in FLNA (Filamin-A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S72N (p.Ser72Asn) variant details
- p.Ser72Asn
- TOPMed rs1557180195
- gnomAD rs1557180195
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.46
- CADD 23.80
- PolyPhen-2 0.27
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available