L11F (p.Leu11Phe) variant of PMS1 (PMS1 protein homolog 1)
L11F (p.Leu11Phe) in PMS1 (PMS1 protein homolog 1) is a missense change. The record also includes experimental measurements and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- cosmic curated COSV59718
- Ensembl rs2048895274
- Missense
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.432