A6A (p.Ala6Ala) variant of PMS1 (PMS1 protein homolog 1)
A6A (p.Ala6Ala) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- rs771930754
- gnomAD 2-189791827-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 10.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.925
- Literature evidence available