S23N (p.Ser23Asn) variant of PMS1 (PMS1 protein homolog 1)
S23N (p.Ser23Asn) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S23N (p.Ser23Asn) variant details
- p.Ser23Asn
- gnomAD 2-189791877-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.41
- CADD 22.60
- PolyPhen-2 0.40
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available