D65D (p.Asp65Asp) variant of PMS1 (PMS1 protein homolog 1)
D65D (p.Asp65Asp) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D65D (p.Asp65Asp) variant details
- p.Asp65Asp
- gnomAD 2-189795831-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 11.50
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.207
- Literature evidence available