G36S (p.Gly36Ser) variant of PMS1 (PMS1 protein homolog 1)
G36S (p.Gly36Ser) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G36S (p.Gly36Ser) variant details
- p.Gly36Ser
- TOPMed rs781053212
- gnomAD rs781053212
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.51
- CADD 22.70
- PolyPhen-2 0.14
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available