K51I (p.Lys51Ile) variant of PMS1 (PMS1 protein homolog 1)
K51I (p.Lys51Ile) in PMS1 (PMS1 protein homolog 1) is a missense change. The record also includes experimental measurements and structural context.
K51I (p.Lys51Ile) variant details
- p.Lys51Ile
- ESP rs370668897
- ExAC rs370668897
- TOPMed rs370668897
- gnomAD rs370668897
- Missense
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.513