H46Q (p.His46Gln) variant of ERCC5 (P28715)
H46Q (p.His46Gln) in ERCC5 (P28715) is a missense change. Clinical records from EBI and UniProt describe it as benign.
H46Q (p.His46Gln) variant details
- p.His46Gln
- 1000Genomes rs1047768
- ESP rs1047768
- ExAC rs1047768
- TOPMed rs1047768
- Benign
- Missense
- EBI: Benign
- UniProt: Benign