M71I (p.Met71Ile) variant of PMS1 (PMS1 protein homolog 1)
M71I (p.Met71Ile) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
M71I (p.Met71Ile) variant details
- p.Met71Ile
- TOPMed rs1172365010
- gnomAD rs1172365010
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.31
- CADD 15.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available