A56V (p.Ala56Val) variant of TGM1 (P22735)
A56V (p.Ala56Val) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive congenital ichthyosis 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- rs147479810
- ClinGen CA7131528
- ClinVar RCV000907290
- ClinVar RCV001109899
- Conflicting interpretations
- Autosomal recessive congenital ichthyosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.33
- CADD 0.20
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive congenital ichthyosis 1; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DAI population (allele frequency 0.056)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)