S39R (p.Ser39Arg) variant of PMS1 (PMS1 protein homolog 1)
S39R (p.Ser39Arg) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S39R (p.Ser39Arg) variant details
- p.Ser39Arg
- ExAC rs777358818
- gnomAD rs777358818
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.70
- CADD 28.80
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.104