S14A (p.Ser14Ala) variant of UNG (Uracil-DNA glycosylase)
S14A (p.Ser14Ala) in UNG (Uracil-DNA glycosylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S14A (p.Ser14Ala) variant details
- p.Ser14Ala
- rs2499976292
- ClinGen CA2580085749
- ClinVar RCV003002484
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available