E59K (p.Glu59Lys) variant of PMS1 (PMS1 protein homolog 1)
E59K (p.Glu59Lys) in PMS1 (PMS1 protein homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- rs587778608
- ClinGen CA161497
- ClinVar RCV000121814
- ClinVar RCV005638440
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.19
- CADD 19.80
- PolyPhen-2 0.04
- SIFT 0.36
- ClinVar: Likely benign (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0942