P28A (p.Pro28Ala) variant of NTHL1 (Endonuclease III-like protein 1)
P28A (p.Pro28Ala) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and structural context.
P28A (p.Pro28Ala) variant details
- p.Pro28Ala
- rs1056290046
- ClinGen CA394298335
- ClinVar RCV001917231
- TOPMed rs1056290046
- Uncertain significance
- not provided
- Missense
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available