S82F (p.Ser82Phe) variant of TGM1 (P22735)
S82F (p.Ser82Phe) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S82F (p.Ser82Phe) variant details
- p.Ser82Phe
- rs141792428
- 1000Genomes rs141792428
- ESP rs141792428
- ExAC rs141792428
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.32
- CADD 23.20
- PolyPhen-2 0.19
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)