P22T (p.Pro22Thr) variant of FLNC (Filamin-C)
P22T (p.Pro22Thr) in FLNC (Filamin-C) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- ESP rs368812043
- ExAC rs368812043
- TOPMed rs368812043
- gnomAD rs368812043
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.35
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available