Q16E (p.Gln16Glu) variant of PMS1 (PMS1 protein homolog 1)
Q16E (p.Gln16Glu) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q16E (p.Gln16Glu) variant details
- p.Gln16Glu
- gnomAD 2-189791855-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.62
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.198
- Literature evidence available