G70R (p.Gly70Arg) variant of TGM1 (P22735)
G70R (p.Gly70Arg) 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 0.20 / 1. The record also includes population frequency data and structural context.
G70R (p.Gly70Arg) variant details
- p.Gly70Arg
- ESP rs150599652
- ExAC rs150599652
- TOPMed rs150599652
- gnomAD rs150599652
- Uncertain significance
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.14
- CADD 10.00
- PolyPhen-2 0.04
- SIFT 0.53
- ClinVar: Uncertain significance (Autosomal recessive congenital ichthyosis 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available