L33L (p.Leu33Leu) variant of PMS1 (PMS1 protein homolog 1)
L33L (p.Leu33Leu) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L33L (p.Leu33Leu) variant details
- p.Leu33Leu
- rs1385709157
- gnomAD 2-189791906-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 12.10
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.696
- Literature evidence available