S32C (p.Ser32Cys) variant of PMS1 (PMS1 protein homolog 1)
S32C (p.Ser32Cys) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S32C (p.Ser32Cys) variant details
- p.Ser32Cys
- gnomAD rs1481320634
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.91
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.251