N133K (p.Asn133Lys) variant of FLNA (Filamin-A)
N133K (p.Asn133Lys) 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.
N133K (p.Asn133Lys) variant details
- p.Asn133Lys
- gnomAD rs1557179686
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.59
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available