L11I (p.Leu11Ile) variant of PMS1 (PMS1 protein homolog 1)
L11I (p.Leu11Ile) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L11I (p.Leu11Ile) variant details
- p.Leu11Ile
- gnomAD 2-189791840-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.57
- CADD 24.90
- PolyPhen-2 0.68
- SIFT 0.02
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.432
- Literature evidence available