E45del (p.Glu45del) variant of PMS1 (PMS1 protein homolog 1)
E45del (p.Glu45del) in PMS1 (PMS1 protein homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E45del (p.Glu45del) variant details
- gnomAD 2-189795766-TAGG-
- Splice Acceptor
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 34.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.787
- Literature evidence available