P5Q (p.Pro5Gln) variant of MSH2 (DNA mismatch repair protein Msh2)
P5Q (p.Pro5Gln) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P5Q (p.Pro5Gln) variant details
- p.Pro5Gln
- rs56170584
- ClinGen CA018457
- ClinVar RCV000076178
- ClinVar RCV000165088
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.79
- MetaSVM 0.62
- CADD 24.80
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available
- Cited in: Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive… (PMID 28494185)
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)