L44L (p.Leu44Leu) variant of PMS1 (PMS1 protein homolog 1)
L44L (p.Leu44Leu) in PMS1 (PMS1 protein homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L44L (p.Leu44Leu) variant details
- p.Leu44Leu
- rs2048906405
- gnomAD 2-189791939-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 16.70
- Population evidence available
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.317
- Literature evidence available