K13E (p.Lys13Glu) variant of MSH6 (DNA mismatch repair protein Msh6)
K13E (p.Lys13Glu) in MSH6 (DNA mismatch repair protein Msh6) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- rs942019524
- ClinGen CA16610862
- ClinVar RCV000458039
- ClinVar RCV000479706
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.53
- MetaLR 0.57
- MetaSVM 0.15
- CADD 27.10
- PolyPhen-2 0.58
- SIFT 0.04
- EBI: Pathogenic (in dbSNP:rs41294988)
- UniProt: Pathogenic (in dbSNP:rs41294988)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)