S23G (p.Ser23Gly) variant of PMS1 (PMS1 protein homolog 1)
S23G (p.Ser23Gly) 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, published literature, and structural context.
S23G (p.Ser23Gly) variant details
- p.Ser23Gly
- gnomAD 2-189791876-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.73
- CADD 27.20
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available