E2K (p.Glu2Lys) variant of PMS2 (P54278)
E2K (p.Glu2Lys) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- Ensembl rs1554309080
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.50
- CADD 26.70
- PolyPhen-2 0.55
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available