M2R (p.Met2Arg) variant of FLNC (Filamin-C)
M2R (p.Met2Arg) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
M2R (p.Met2Arg) variant details
- p.Met2Arg
- gnomAD 7-128830642-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.37
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available