W34* (p.Trp34Ter) variant of FGFR1 (P11362)
W34* (p.Trp34Ter) in FGFR1 (P11362) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
W34* (p.Trp34Ter) variant details
- p.Trp34Ter
- rs2150967174
- ClinGen CA370736649
- ClinVar RCV003312714
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.07
- MetaLR 0.21
- MetaSVM -0.84
- PolyPhen-2 0.00
- SIFT 0.71
- MutPred 0.43
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available