G36D (p.Gly36Asp) variant of PMS1 (PMS1 protein homolog 1)
G36D (p.Gly36Asp) 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 and structural context.
G36D (p.Gly36Asp) variant details
- p.Gly36Asp
- Ensembl rs2106213299
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.68
- CADD 23.70
- PolyPhen-2 0.22
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available