L4L (p.Leu4Leu) variant of PMS1 (PMS1 protein homolog 1)
L4L (p.Leu4Leu) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- gnomAD 2-189791819-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0911
- Literature evidence available