N57N (p.Asn57Asn) variant of PMS1 (PMS1 protein homolog 1)
N57N (p.Asn57Asn) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N57N (p.Asn57Asn) variant details
- p.Asn57Asn
- rs756254396
- gnomAD 2-189795807-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.34
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.18
- Literature evidence available