V107M (p.Val107Met) variant of FLNA (Filamin-A)
V107M (p.Val107Met) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
V107M (p.Val107Met) variant details
- p.Val107Met
- rs2148121877
- ClinGen CA415254386
- cosmic curated COSV10591
- ClinVar RCV001817710
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.59
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available