T21A (p.Thr21Ala) variant of TGM1 (P22735)
T21A (p.Thr21Ala) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Autosomal recessive congenital ichthyosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T21A (p.Thr21Ala) variant details
- p.Thr21Ala
- rs140542428
- 1000Genomes rs140542428
- ESP rs140542428
- ExAC rs140542428
- Conflicting interpretations
- not provided; Inborn genetic diseases; Autosomal recessive congenital ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.26
- CADD 0.55
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Autosomal recessive conge)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)