V21M (p.Val21Met) variant of PMS1 (PMS1 protein homolog 1)
V21M (p.Val21Met) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V21M (p.Val21Met) variant details
- p.Val21Met
- Ensembl rs2106212967
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.75
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.446