K26K (p.Lys26Lys) variant of PMS1 (PMS1 protein homolog 1)
K26K (p.Lys26Lys) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K26K (p.Lys26Lys) variant details
- p.Lys26Lys
- rs2048899529
- gnomAD 2-189791887-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 13.60
- Population evidence available
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.861
- Literature evidence available