M69I (p.Met69Ile) variant of PMS1 (PMS1 protein homolog 1)
M69I (p.Met69Ile) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
M69I (p.Met69Ile) variant details
- p.Met69Ile
- TOPMed rs1344960114
- gnomAD rs1344960114
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.62
- CADD 26.60
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available