S32S (p.Ser32Ser) variant of PMS1 (PMS1 protein homolog 1)
S32S (p.Ser32Ser) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S32S (p.Ser32Ser) variant details
- p.Ser32Ser
- gnomAD 2-189791905-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 12.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.251
- Literature evidence available