N31N (p.Asn31Asn) variant of PMS1 (PMS1 protein homolog 1)
N31N (p.Asn31Asn) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N31N (p.Asn31Asn) variant details
- p.Asn31Asn
- rs1282042919
- gnomAD 2-189791902-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 12.90
- Population evidence available
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -1.53
- Literature evidence available