I52I (p.Ile52Ile) variant of PMS1 (PMS1 protein homolog 1)
I52I (p.Ile52Ile) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I52I (p.Ile52Ile) variant details
- p.Ile52Ile
- rs972153044
- gnomAD 2-189795792-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 10.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.302
- Literature evidence available