P27L (p.Pro27Leu) variant of MSH2 (DNA mismatch repair protein Msh2)
P27L (p.Pro27Leu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- rs750746034
- ClinGen CA022338
- ClinVar RCV000164692
- ClinVar RCV000228123
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.83
- MetaSVM 0.83
- CADD 29.40
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)