M2L (p.Met2Leu) variant of FLNC (Filamin-C)
M2L (p.Met2Leu) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M2L (p.Met2Leu) variant details
- p.Met2Leu
- gnomAD 7-128830641-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available