F435L (p.Phe435Leu) variant of TGM1 (P22735)
F435L (p.Phe435Leu) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
F435L (p.Phe435Leu) variant details
- p.Phe435Leu
- rs754922174
- ClinGen CA16619857
- ClinVar RCV000481361
- ExAC rs754922174
- Likely pathogenic
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.71
- ClinVar: Likely pathogenic (Autosomal recessive congenital ichthyosis 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available