C153F (p.Cys153Phe) variant of FHL1 (Q13642)
C153F (p.Cys153Phe) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Myopathy, reducing body, X-linked, early-onset, severe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
C153F (p.Cys153Phe) variant details
- p.Cys153Phe
- rs122458145
- ClinGen CA414608574
- ClinVar RCV003326093
- Likely pathogenic
- Myopathy, reducing body, X-linked, early-onset, severe
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Myopathy, reducing body, X-linked, early-onset, severe)
- EBI: Likely pathogenic (in RBMX1B)
- UniProt: Likely pathogenic (in RBMX1B)
- Structural context available