S42C (p.Ser42Cys) variant of TGM1 (P22735)
S42C (p.Ser42Cys) in TGM1 (P22735) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in ARCI1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S42C (p.Ser42Cys) variant details
- p.Ser42Cys
- 1000Genomes rs41295338
- ESP rs41295338
- ExAC rs41295338
- TOPMed rs41295338
- Benign
- in ARCI1
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.50
- CADD 24.00
- EBI: Benign (in ARCI1)
- UniProt: Benign (in ARCI1)
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available