P5R (p.Pro5Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
P5R (p.Pro5Arg) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P5R (p.Pro5Arg) variant details
- p.Pro5Arg
- rs56170584
- ClinGen CA346728432
- cosmic curated COSV99028
- ClinVar RCV000546654
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.57
- MetaLR 0.83
- MetaSVM 0.81
- CADD 24.50
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)