Q3H (p.Gln3His) variant of PMS1 (PMS1 protein homolog 1)
Q3H (p.Gln3His) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q3H (p.Gln3His) variant details
- p.Gln3His
- gnomAD 2-189791818-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.36
- CADD 17.70
- PolyPhen-2 0.15
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.545
- Literature evidence available