Q3Q (p.Gln3Gln) variant of PMS1 (PMS1 protein homolog 1)
Q3Q (p.Gln3Gln) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q3Q (p.Gln3Gln) variant details
- p.Gln3Gln
- rs373031044
- gnomAD 2-189791818-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 9.98
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.545
- Literature evidence available