T131L (p.Thr131Leu) variant of CHM (P24386)
T131L (p.Thr131Leu) in CHM (P24386) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
T131L (p.Thr131Leu) variant details
- p.Thr131Leu
- rs2147676302
- ClinGen CA2573159651
- ClinVar RCV002254535
- Ensembl rs2147676302
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)