Q16R (p.Gln16Arg) variant of PMS1 (PMS1 protein homolog 1)
Q16R (p.Gln16Arg) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q16R (p.Gln16Arg) variant details
- p.Gln16Arg
- 1000Genomes rs570876790
- ExAC rs570876790
- gnomAD rs570876790
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.92
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.198