D41G (p.Asp41Gly) variant of PMS1 (PMS1 protein homolog 1)
D41G (p.Asp41Gly) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D41G (p.Asp41Gly) variant details
- p.Asp41Gly
- ExAC rs545600556
- TOPMed rs545600556
- gnomAD rs545600556
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.87
- CADD 31.00
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.59