R55Q (p.Arg55Gln) variant of PMS1 (PMS1 protein homolog 1)
R55Q (p.Arg55Gln) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R55Q (p.Arg55Gln) variant details
- p.Arg55Gln
- cosmic curated COSV10968
- gnomAD rs1376121914
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.59
- CADD 28.30
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.157