P5P (p.Pro5Pro) variant of PMS1 (PMS1 protein homolog 1)
P5P (p.Pro5Pro) 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.
P5P (p.Pro5Pro) variant details
- p.Pro5Pro
- rs778660303
- gnomAD 2-189791824-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 13.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.73
- Literature evidence available