L48I (p.Leu48Ile) variant of XPC (Q01831)
L48I (p.Leu48Ile) in XPC (Q01831) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
L48I (p.Leu48Ile) variant details
- p.Leu48Ile
- 1000Genomes rs2229089
- ESP rs2229089
- ExAC rs2229089
- TOPMed rs2229089
- Benign
- Missense
- EBI: Benign (in dbSNP:rs2229089)
- UniProt: Benign (in dbSNP:rs2229089)
- Structural context available