K62K (p.Lys62Lys) variant of PMS1 (PMS1 protein homolog 1)
K62K (p.Lys62Lys) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K62K (p.Lys62Lys) variant details
- p.Lys62Lys
- gnomAD 2-189795822-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 8.84
- 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 -0.104
- Literature evidence available