M1V (p.Met1Val) variant of TGM1 (P22735)
M1V (p.Met1Val) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs760172387
- ClinGen CA7131570
- ClinVar RCV001110690
- Uncertain significance
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- MetaLR 0.32
- MetaSVM -0.82
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (Autosomal recessive congenital ichthyosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)