G29V (p.Gly29Val) variant of PMS2 (P54278)
G29V (p.Gly29Val) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes population frequency data and structural context.
G29V (p.Gly29Val) variant details
- p.Gly29Val
- 1000Genomes rs146176004
- ESP rs146176004
- ExAC rs146176004
- TOPMed rs146176004
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available