N46T (p.Asn46Thr) variant of PMS1 (PMS1 protein homolog 1)
N46T (p.Asn46Thr) in PMS1 (PMS1 protein homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N46T (p.Asn46Thr) variant details
- p.Asn46Thr
- rs2049300713
- gnomAD 2-189795770-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 23.40
- 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 -1.68
- Literature evidence available