L11L (p.Leu11Leu) variant of PMS1 (PMS1 protein homolog 1)
L11L (p.Leu11Leu) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L11L (p.Leu11Leu) variant details
- p.Leu11Leu
- rs762260830
- gnomAD 2-189791842-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 9.91
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.432
- Literature evidence available