S32P (p.Ser32Pro) variant of PMS1 (PMS1 protein homolog 1)
S32P (p.Ser32Pro) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S32P (p.Ser32Pro) variant details
- p.Ser32Pro
- gnomAD 2-189791903-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.88
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.251
- Literature evidence available